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Medical Genomics Lec2 Genetic Diseases Zoom 2 10 2024 — Transcript · YTtoTranscript

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Medical Genomics Lec2 Genetic Diseases Zoom 2 10 2024

أمينة رشيد · 13,718 words · 69 min read · EN

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Below is the complete, readable transcript of Medical Genomics Lec2 Genetic Diseases Zoom 2 10 2024 by أمينة رشيد on YouTube. Read the full text, copy any part you need, or generate a transcript for any video with our free tool.

Peace be upon you. May God give you

strength. Good evening, Doctor. Good evening, everyone. May God give you strength. Hello, Doctor. We can't hear

your voice. Yes, we can't hear you, Doctor.

Peace be upon you. We can't hear your voice, Doctor. There's no sound. Now, can

you hear me? Yes, is it clear now? Yes, yes, is it clear now? [Music]

Okay, if the sound is clear, let me start. Yes, just one minute. I have the microphone. No, the sound is clearer now. Yes, good. Okay, the speaker. Now, speak up. Is anyone here?

Peace be upon you. May God give you strength, Doctor. Okay, great. Now, I can hear you, and you can hear me. Good. Okay. How many of us are here? Amina, Bayan, Hadeel, Hassan, Daght, Ruba, Zaid. We're not here. Who else is here? Rina. Rina just joined. She's here. B1, Ain, 3, A, Kh, 6, seven. One second, one person is still missing.

Of course, I'm recording. I joined Zoom because Zoom has recording, so I'll record this video. But I hope everyone is here because it's the first lecture. This lecture will be about the course. Okay, let me, Doctor. Yes, the sound was louder a little while ago. The sound was better a while ago. Oh, it was a little louder

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than this. Okay, how is the sound now compared to the rest? I changed two components on my end. The camera and the sound are normal. This is clearer. This is much better. Excellent. Okay, okay, let's go.

[Music] The course. Okay, okay,

let me share this. You see, you see this Word page? Yes, that's right. Okay, this course is different from the Transition course. I think it's a repetition, right? There are some similarities, but it will be about understanding genetics, how to analyze genetic diseases, especially cell disorders in the field. The course will mostly consist of project

work, not exams. It will be 60% project work and 4% visual work, or 50%, 50%, 60% visual work, and 4% visual work. Of course, I will send you the course. The course session here will primarily focus on these two records and their use. The emphasis will be heavily on the topic of [unclear - possibly "number]," meaning that

since you work in medical laboratories, you'll gain more experience in how to deal with [unclear - possibly "give and take and give and take"]. To some extent, from my limited experience—I haven't worked as a doctor—we'll talk a little about the ideas they use with patients, how the patient is treated, so we can think about them. Of course, the doctor

should think about the patient or the family more than anyone else. The doctor, especially the [unclear - possibly "practitioner" or "program"], should all work together as a team. We will try to focus on understanding these diseases through [unclear - possibly " patterns" or "patterns"]

[music], meaning there will be a focus on the topic and how to deal with the family or how to interact with people who come for medical advice. Therefore, we will talk about patients and families to see what we need to do, including [unclear - possibly "sugar" or "sugar"] during pregnancy, because many [unclear - possibly "sugar" or "sugar"] are now [unclear - possibly "sugar" or "sugar"]. We have a case of interest in

the screen during some of the basic course in

[Music]. This is the different level of [Music],

and we will take some examples of it. Lastly, we will talk about the new style. Many now in Western countries have become somewhat mandatory, especially for women over 35. They have risks that it

will be a mention on paper criticism. Here, it might not necessarily be paper criticism; it could be paper or dabs. Today, at the end of the course, at the end of today's lecture, you will take an important task. This will be an assignment to do a presentation next week. It will be a short presentation for each

group, 10 minutes. We also have a project. Finally, I have the

first week of the

[Music] module, which is

more than a week long. The last [Music] module is the lessons, the slides. Plus, I will give you a book. The book is available. This book [Music] is called [Music]. The book is

from the University of Texas. It's not a very big book, only 0 pages, but it's very long. It means it helps in understanding the topic and the modules. If necessary, I'll give a review or something. I'll send you my WhatsApp number now. Regarding the book, it's not showing up. Sorry, I have n't shared it. Okay, I just

noticed that the book is called "The Book of the Two," which is the PDF version. The authors are Gonzalo from Mexico and James Fosky from Houston, Texas. They are one of the four best people in America, very well- known for their books and lectures. If you want to follow their lectures, you can find them

on YouTube. Okay, let me go back now.

We expect the course to be face-to-face in all cases, but it seems that with these circumstances, we always have to be prepared to have online sessions. I tried, honestly, to use this account, one of the accounts I use for Zoom from the Arab American University, with their permission. The recording will be available for

a week, then I'll transfer it to you. I'm happy to have it available. I'll send you the recording for any lecture within a week. You can't rely on it being on the link because they do n't give me more time. But the advantage of Zoom is that there's an easy recording, honestly. Plus, it's more convenient to use.

[Music] If anyone here has a recording, okay, okay. Now we need to have it. So,

how many of us are in this section? These are the ones actually registered now. But are there others? I mean, I have one: Hadeel Amina, two: Reenat, four: Bayan, five: Hassan, six: Raghad, seven: Reenat. We said it twice. You people, no, Hassan, twice. Hassan, Hassan, right? Twice? Yes, twice. Zaid Hassan, no, Zaid is here. Wait, where?

3, 4, 5, 6, 7, 8, 9, 10. Hassan, twice, registered. Hassan has two accounts here. Nine of us, Dr. T, are on the group. Yes, we are nine, I think, because we register two accounts at a time. Now, I opened my phone and found there aren't many, not many people. It means you're working as

groups, not as groups. From now on, we'll coordinate with each other and work as groups because today we have an important task. Today I'll give you each group's task. Okay, let me start here. Let me

go directly to the first lecture, to the director, number one. You see all the slides? Yes, clear. Okay, okay. In the name of God, the Most Gracious, the Most Merciful. If anyone has any observations, comments, or questions, I'll start quickly. If anyone has a question or knows something about what we've discussed, please let me know. Okay,

today I'm going to talk about, or let's call it Cantor, which is about

Mendelian diseases that we're going to talk about. Essentially, in most areas of the course, we must begin by understanding the concept of the gene, meaning the structure of the genetic material in humans. What is its structure? Is it stable, or is it subject to change? What is its role in health and disease?

How does it contribute to disease? Are there any contributing factors? Furthermore, how do mutations occur, and what are the causes of these mutations? Basically, is it always variable, subject to significant changes due to internal and external factors? What is the fate of these changes?

We will then discuss their classification, specifically their molecular description. We will define each mutation or change, explaining what it is, how it is described, and its effects. We will also briefly discuss terminology, the commonly used terminology, so that we always understand what we are using. Finally, since we have finished discussing these topics, we will talk

about mutations and their role in health and disease. Mutations, how they

happen, and what types exist. Are they the difference between them? Their function is a process of reproduction in a

living organism through sexual reproduction. So, if a couple is

in the nucleus of the two parents to produce sperm from the father and an egg from the mother in order to produce these two cells, each with 23 chromosomes, they will have half the amount and half the number of chromosomes. Each copy of this chromosome has its corresponding copy in the other cell. So, once these two cells come

together,

let's take one example. Every person has one copy of each chromosome.

[Music]

Inside the nucleus,

we have simple genetic material outside the 46 chromosomes. This is the genetic material called the mitochondria. It is small, and it may not be found inside the nucleus, but it is very important for some vital functions. Therefore, there are mutations in it, or there are differences in it, also related to some genetic diseases.

We will talk about that when its turn comes. It does not follow the Mendelian method. Okay, more description about the gene. Of course, we are here We talked about it, it's the blue genome, 43 chromosomes, 23 of them chromosomes. So if I have, I mean if I have the baby, of course, this person is male, I have

23 in addition to the... and, excuse me, no, there's a mistake here, this is the X here and this is the Y here, there's a scratch on them, I mean, this is the X and this is the Y. Okay, I have an aproxyl in the nickel genome, about 3200 million nickels. I'm talking about what's the

chromosome, I have from 1 to 22, plus I have the XY in the case of a male or XXX in the case of a female. The shortest chromosome is 50 million chromosomes, the long chromosome is, of course, 22, the short one is, I think, 22, the long one is 200, it's a number, I

think, 260 million. We call the non-sex chromosomes, other than the X, the autosomes, so I call them autosomes, and the sex chromosomes I call, of course, XY. Of course, all of it is... [music] 24000 have 4 butter

[music] Because it's so

small, it doesn't have the capacity to carry anything inside the cell, inside the cytoplasm. It's like that, meaning all diseases, diseases with problems in the genes, are inherited from the mother and not from the mother. For example, I have

1600 chromosomes. Regarding the Skechers chromosome, the metaphase region at the chromosome, we can see the regions where the chromatin is located. The

chromatin is in the center of some of the genes, and I have the Sern region where the sister genes are linked. And I have the K region

[music]

we talked about in the

chromosome. Okay, we learned about it and remembered. This is what I have: 46 chromosomes. Does it mean that it's inherited from the mother? Does it mean that nothing changes with this person? It means that it doesn't have any changes, and it's like we were inherited from before. We're supposed to be like the children of Adam, meaning the exact same structure.

But actually, the gene, the gene, is always exposed to changes. These are changes in the genome. These changes may start

from and may end from To every chromosome, a complete copy disappears or is added,

regardless of the effect. It's

not a perfect process; it doesn't happen without errors. I have mistakes in it, and they're normal. Why? Because the process is so huge. It's impossible for the entire DNA to be transcribed without any errors. I have errors, and among them is... One of the errors that happens is... Sometimes, when I want to add three

letters in a row (T, C, T, C, C), it happens, like I'm stammering. How do I put the first one? I put the fourth one, and it's not called... They are segments found inside the two genes. [Music] They are

like segments of the DNA that move from one place to another. They

move to another region in the two genes. They might affect the gene, or sometimes two might move next to each other and take all the genes in between to another region. This is called transposition. A well-known phenomenon in all living organisms, from bacteria to humans, is translocation, which is the process of mutation and cell

replication. It's considered an important phenomenon in the genome. Some previously considered it a form of gene mutation, but it's actually a process of moving components or elements within the genome that damage it, causing gene destruction. While they sometimes disrupt functions, in the long run, healthy transformation can help bacteria survive. Many processes occur during genome replication, and

during the separation of chromosomes, a process called fusion takes place. This can affect the transfer of DNA segments to the wrong place or sometimes change their orientation, causing chromosome-to-chromosome fusion. All these factors can occur even without any external factors or materials. For example, if we leave a human in a completely healthy environment with no external factors, this can still

happen because all of these factors are present in the genome.

[Music]

Please, Bayan, please, I can hear you. Raise your hand. Please, I have to give you an S.

Bayan, you raised your hand, Bayan.

Maybe it's a mistake, Doctor. Oh, I mean, I thought she had a problem with the mic. Okay, now, in addition to that, I have those who are external. It might affect, it might happen. Most of these

processes are the division process, preparation and weakening of chromosomes and preparing them for the division process and preparing them for cell division. Or, it happens more often in the chromosome because it is the most common source of areas of genetic differences and disorders or chromosomes.

[Music] [

Music] In the chromosome, there are mutations, and I have those that might affect the gene structure, the structure of the S. Either on a small one, or sometimes it might be on chromosome disorders. [Music] It is a large one. Okay, I'm talking about us. They might come in two forms. The first form is mutation, which is germline mutation, and the

second form is spermatogenic mutation. What do I mean by germline mutation? Germline mutation is mutation found in the germline, which is either in sperm or in The egg is fine, and it's always transferred, meaning it's taken from this or that. That's why we call it the germ, which is the seed, meaning from the egg, which is from the

egg-laying animals. Therefore, all the cells in the embryo carry the mutation. There aren't some cells that carry it and some that don't; all its cells carry the mutation, meaning they are all affected by this mutation and all express the mutation. Now, this person who carries this mutation, the germline, for example, in the case of a male,

when he wants to have children, he will have, of course, if this mutation is from the egg or the sperm. Now, during the process of giving and producing sperm, half of the sperm will be affected, carrying the mutation, and the other half won't. Why? Because each cell has one clone, which, for example, came from the

mother. Each cell in them produces on the other side. This might happen at some stage during the process. After that, meaning in some area of the embryo, I don't have it, and

this is the cell that was attached to it. The mutations can occur during a period, and it can happen to us during childhood or adolescence. Cancer, especially in the tissues affected by tumors, is full of them. If we examine a patient, we will find that they are not present, nor are they present. They are

only present as a result of the sokol. Okay, now let's see, Amina. Go ahead, Amina. Doctor, you are talking about the lash, where does it come in the location of the mozzs? You mean the people, the people. Now, the mozzs, we have the mozzs. Of course, the word mozzs comes from a meaning of a piece, yes, and a piece.

No, even the local tiles are called mozzs because they are mottled, meaning they are mozzs. The mutation can usually occur when I talk about it. It is in the very early stage after the lash, meaning I have the first cell. Now, meaning the meeting. The animal lays the egg and produces the first egg.

If a mutation occurs in this egg, all the cells will be affected, but it won't be a mutation. It will be a mutation, meaning I have two options. Either the first option is that it's inherited, coming from the sperm, from one of these two sources, so it comes from the mother or the father. The

second option is that the mutation occurs after the process of the animal meeting the egg in this first stage. If it happens in the first egg, what will it be? It will be a mutation, present in all the cells, and it usually causes what we call a mutation. Sometimes it can be a mutation

coming from the sperm, but it doesn't come from the mother or the father. It comes from the sperm, meaning the sperm has the mutation, but the mother has it and the father doesn't. We also call this a mutation. But in this case, if it 's in the sperm or In the first stage of cell division, or in the

first stage of cell division, what happens is a complete body mutation, not mosaicism. When does mosaicism occur? If the mutation happens in the early stages after the first stage, meaning after the first cell division, and the first cell begins to divide into two, then four, and finally eight, if a mutation occurs in

one of the four cells, it means that a quarter of the tissues that will be produced in the body will carry the mutation, and three-quarters will not. So, mosaicism is usually a later stage after the first cell division because if it happens in the first cell, it means the mosaicism will stop. Mosaicism is more common in chromosomal abnormalities,

meaning chromosomal disorders. For example, we can talk about these chromosomes, which are called differences in the number of chromosomes. So, we have diseases that have two types: diseases resulting from differences in the number of chromosomes, and diseases resulting from differences in the number of chromosomes. Regarding your chromosomal differences, there are many, meaning they are well-known, or it's possible that the number of chromosomes is

more common. Now, cases of having a single chromosome are very rare, very rare. It exists, but it's rare. Okay, okay, okay, okay. Now let's

talk about the difference in terms of how many chromosomes I can have in a living organism. If I have a person—and this is the slide you saw last time in the math course, some of them, or translation— if I have a person, he is the product of mating between this man and this woman. Of course,

this man has 46 chromosomes, which is XX. This person I have here, this child, who is

female, has approximately 30 to 100 mutations. [Music] I 'm talking about 30 mutations. 30 mutations that are different from those present in the father or mother. And of course, there will also be mutations that are specific to this person, like a unique fingerprint. There are 100 or 100 mutations here. We'll talk about many of them [music], some of which are inherited from the father

alone if the father is affected. But in some diseases in the genotype, one of these mutations is caused by a new mutation in this child. It is common in the genotype, mainly genotypes,

meaning those that the child acquired during the process of birth. One of them was his bad luck that the mutation appeared in a gene that does not tolerate mutations, especially of course. Why is it genotypes and not Rh inheritance? Because it is not logical that, as a statistical probability, he would have two mutations on the

chromosome from the father and on the chromosome from the mother in the same location or in the same gene, and both would be defective. This is a very rare possibility for a child to have genotypes. It occurs during the development process in the embryo or during the production of the egg and sperm. Both of them had

new mutations, and the two mutations were in the same gene, meaning it's very rare. But for me to get just one mutation is possible, but if this mutation occurs in one of the genes they have—meaning they have a copy of it—it might not have much of an effect. However, if they are in

critical genes that couldn't tolerate the mutations, meaning they have a high loss-function or high loss-function ratio, then I will immediately develop a disorder, a condition that is usually linked or has a pattern similar to a denture, but it is not inherited. Okay, so if we take one person from humanity—any person, regardless of race,

gender, color, or appearance—and compare them to the reference genome, which is a collection of data from a large number of races to form a fairly consistent reference that reflects human differences, and we take this person and look at them, we will find that this person— any one of us, even us sitting here—has this characteristic.

We took the genome and created a human genome. We'll find that each of us has a genome that differs from the human genome by approximately 4 million sequences. It has 4 million regions that differ from the human genome. This doesn't mean it's wrong or right; it's a collection of human genomes. Part of the differences comes from the individual's background, their extended

family, their tribe, their region, their ethnicity, and their origins. These combinations accumulate differences, reaching approximately 4 million,

which is close to 100 %. These mutations are the second, less common type, and the third, which is the smallest. For example, around the neck of a person, you might find a region that's, say, 50 kilometers long, with two or three copies of it.

Okay, the question is, when these mutations occur in a person—like the case we discussed here—what happens to these mutations? These mutations that occur in a person are either pathogenic or non-pathogenic, right? What happens to them in my case? I'm talking about this mutation. When it happens in one person, it's a mutation, but this person will have

children, grandchildren, and so on. If I have this mutation, I have different possibilities. If it's the disease-causing gene, then of course, the mutation will be, for example, as we talked about yesterday, for example, the DeNovo gene. Like we talked about yesterday, you were a large group in the group that had the Hoja gene. This patient, the poor Hoja gene,

has 20 or 30 diseases: heart disease, liver disease, eye disease, and so on. And most of the time, he can't reach a certain stage, meaning he can't reach an old age and can't get married. So these mutations he has, and we said that a large part of the mutations, okay, the Hoja mutations, are all,

not all, about 50% of them, you rarely find someone who reaches the mating stage and gets offspring. So, these are the mutations. They have them, so let's

say they become like the black sheep, they have to get out. They have to be removed because they either have a mutated genitalia, meaning it affects their ability to live, or their ability to reproduce. In both cases, they are a burden on the carrier of the mutation. Therefore, in the end, they begin the process of

removal from

society. They were considered bad over time. We should imagine what would happen to them.

These factors are in the normal situation. In the normal situation, if the mutation is very large, the rule should be that there are exceptions. Unfortunately, in our country, there are many examples of exceptions that sometimes lead to a change in the existing rule. For example, we have mutations, but they increase because they are widespread, and

people are growing up, resulting in a large number of affected individuals. Not all mutations require a very strong process; some mutations are selected for at certain ages. Very advanced, meaning the disease and its symptoms appear after age 40 or 50. The problem is that they may have lived, married, and had children, passing on mutations. Then, the disease

becomes more severe, and they die. This is weak. If it was present at a young age, the rule here is that it's okay. Now, if the

mutation I have gives me—for example, for people who live in low- oxygen environments—they develop a mutation in one of the genes related to oxygen, meaning they can tolerate a certain amount of oxygen, like those who live in high-altitude areas in America. This mutation gives these people an advantage in this environment. Therefore, these are the people who will develop this mutation. They will have an

advantage over the rest of the population, and they will have the advantage of living better, marrying better, and being more numerous. This increases the likelihood of finding some of them as a result of having a population with high mutation rates, like, for example, the Sick Man anemia, even though it is a disease because in

Africa, this mutation

gained prominence in the community because, although the person with the mutation has a slight problem, like anemia, they don't have the fear of contracting malaria and dying from it. And I have the third option, the third scenario, which is the Neutral Evolution scenario. The mutation, which has no positive or negative impact in an area where

this mutation came and overcame the population. Of course, after a while, this should reach a stage where there is balance, and the rule or equation applies to it. Now, based on what is the HAPPER, what I say is, if I have an organ, then I have a good population, and this The organ disease has a mutation here.

This mutation I have is in the traits that are AA plus capital or AA small, and I have the capital Y, which is a squill. Of course, if this mutation is neutral, then if the mutation continues to pair with each other, it should pair up significantly. This mutation was very large, so after a while, I should have a gene

for each one. I should have a

gene that loses some of its uniqueness until they become balanced. In this

case, this hypothesis only applies in a few cases. We see that this applies perfectly. In the following cases, our medicine gives us a chance, according to the equation we saw before, to achieve this balance. I don't have

this balance. I don't have a balance

between them. So, to achieve this, I need four conditions. First, I must not have a large number of genes. This is because a small number is preferable, and this means it is very popular. Therefore, this disrupts the genetic path. Then, I must not have this gene. The area I have, where something happened, there was

mating, meaning the interbreeding between these creatures. This is what [music]

means, there isn't a process of separation, their shadows mate. If something happens, I have mating between the shadows, and God knows best. After a while, it's as if these creatures laid eggs on these small creatures, which are called "Soul Soul." Be careful, this is one of the things that happens in living creatures, in humans. I mean,

in many societies, we don't have random dead. For example, in countries, for example, notice when immigrants go to European countries, they mostly marry each other. Their culture is the same, their religion is the same, their language is the same. This is because their workers try to suppress the idea of diversity. They try to impose the

fifth condition, which is that none of these mutations that exist have a negative advantage that prevents them from reproducing. For example, if it has one of these mutations, it might have a negative select pressure, meaning it can't tolerate conditions like extreme cold. So when it goes to a cold environment, the genotype carrying this genotype won't be able to

withstand it; it will die automatically over time. So, they have an adaptation problem. They have a natural selection against them. This is what happens here, and I wo

n't go into the details. A group of people, between one and another, I have a square BQ. This is in the case of a

doctor, or I just want to ask, when we talk about... when we talk about... are we talking about... or about a group in general? As a general statement, if I have these... they

no longer apply to them. I mean, I'm saying the... I mean, it has reached the point of... it has reached... if the conditions are met, one of them is that I do n't have a session. We'll talk about the session in the topic. I mean, I want to talk about each of these factors that

break the five conditions. For example, the gift Gene flow comes from the fusion section. All the conditions will be disrupted. For example, in a society, I have a zygote between all these zygotes, between the three zygotes. Suddenly, a group of people enters this society who, let's say, have unique features, meaning they have

excellent qualities. Mating will be better for these people. They will have an advantage, and mating with them will be more likely. They will become the zygotes. They will have an advantage, and after a while, they will become the zygotes. So, gene flow sometimes affects natural selection. We will now talk about natural selection in certain cases. For example, the most common

thing in the topic of selection is when I have an zygote. We will talk about number four, which is random selection, which is when I have a completely random mating process. In the fusion, any person can mate with another, but this rule does not apply to humans. Come and take our society, on a small scale. We do not have random selection. We're

dead, so we find that genetic diseases, by their very nature, always gather in certain geographical areas or families because they have, in other words, reproduction. They have specific conditions for reproduction of the deceased, that they must be from the same family, must be from the same region, must have the same religion, the same language.

This leads to the absence of the gene pool.

[Music] It's a metaphor. I have a tyrant. There's a rule. Let's

take one of them here: the Bootleneck Effect and two: the Vader Effect. The Bootleneck Effect means that I have a Y-type. This Y-type has everything in it. The Y-type is supposed to have a larger population. All the front genes are present, but suddenly a circumstance occurred that forced a group of people to

transform from humans to live in an isolated area. Let's assume this was a large area inhabited by people, and suddenly an earthquake occurred, and this earthquake led to the separation of a small island. Alone, and the small island alone, what was in it? What was in it? The group was a section of the

larger community. What happened here? I mean, I'm from the group. What happened? I have a certain factor, which is a physical factor, a political factor, a disaster factor, which led to a group being confined to a certain area as a result of the circumstances, the result of political and social circumstances, disasters. And there was only one choice for this

group to live in an area separate from the rest. Now, the more diverse this boat name is, the more the diversity here appears. It might be similar, but the more diverse this boat name is, let's suppose there was an earthquake, and on the whole island, only three people lived. And these three people married and went out. What will we find? We will find that

after a while, all of them have the genotype of one of these three. Of course, one of the most famous examples of this is the funny example on an island in the Pacific, approximately. It seems that out of approximately 2000 people, around 300 to 400 suffer from an autosomal residual disease called Akramt, which is the cause of the genetic mutation. About

400 years ago, a small group of people from one of the towns went to this island in a ship and settled there. No one knew about them, and they remained on the island, living alone. They preferred to marry. They were a very limited group of people, and it was clear that one of them had an autosomal residual mutation.

Now, with inbreeding, their daughters are spreading, so they have a very high rate of this mutation. This is due to the presence of a mutation in the offspring, which is called the "Father Act." The " Father Act" is the same as here; if the mutation is present, if the mutation is present, then

I have actually created a "Founder Effect," for example. In the families we have today, you'll find that in a region, there's a mutation. In a village, this mutation is present in more than one generation—the first, second, and third generations. There might be someone who, 200 years ago, didn't have this mutation, but due to

mating conditions, social or political conditions, this mutation persisted. So, whoever gives the mutation has the second generation, and so on. The defective gene became prominent in the generation. Gene flow, of course, is another factor that affects the generation, meaning the generation of a human group in a certain region, and it affects the

balance in that geographical area. We see this more often in living organisms. For example, when they bring a group of fish to a lake, and this lake contains different types of fish, and they bring in a type of fish that has a certain advantage, after a period of time, it automatically increases and may interbreed

with the other fish and disrupt their population. And in the end... It turns into a second Pop Leach, which destroys the existing hard and natural selection system. This leads to the selection of visuals that have the ability to adapt to the station. Like, who's raising their hand here? Excuse me, not a girl, Amina, you're raising your hand.

Go ahead. I just wanted to say that you should continue the point you were making. Okay, fine, but this point is because I've already finished it. Now, the fourth point we talked about is the third section. Section is a process that gives an advantage to a group based on the face vector. This is mostly

because whoever carries more of it is the one who survives, and the others are bots. Here, I have individuals who have [music] a little of this, which gives them resistance to pests. After a while, they will have the advantage and will mate and multiply because the survivors will have multiplied, and these will be finished.

This might apply to small creatures or In plants, or something like that, it becomes clear to us, or in young organisms. In humans, we see it in some populations. For example, in Africa, those with sickle cell anemia have an advantage; they live longer in areas of the Colombian highlands. They have a gene related to oxygen,

meaning a load. Okay, the last factor we talked about, as an example, is that we usually leave things to natural mating. We should have it, but if we leave it, if we don't leave control, we are trying to do something, meaning to limit the entire population at the expense of the general population. Of course, this

happens a lot in plants when we do the breeding process and choose the best plant. Over time, we finish off the existing natural diversity. This, for example, has led to the disappearance of many local plant varieties because these local varieties don't have a specific trait. So, all the companies that do seed breeding or seed selection

select the best traits and eliminate the natural or local varieties. Of course, this exists in plants, and it's even more prevalent in humans, on social, religious, and cultural levels. This is because it's a process of mating or limited interbreeding under specific conditions. This leads to an increase in the concentration of certain alleles in a particular area. For example, I

was recently with someone in one of the Hebron neighborhoods, in a village 50 or 60 years ago. He said that in our neighborhood, it was absolutely impossible for someone to give their daughter to a stranger. He said it was considered a great shame if someone married their daughter to a family outside the neighborhood.

Thankfully, things have changed now. So, we've finished, at least. The question is, when you determine what this means, and you haven't been exposed to these five conditions we mentioned, it should be a general rule. But if you've been exposed to one of the conditions we mentioned, then the situation will change, and I'll need to

understand the context of what happened and its role. Let's take a break for prayer. Let's take... Exactly in minutes because today I honestly want to try not to finish at nine, I want to try to finish. Okay, okay, fine, God willing, God willing,

exactly in minutes. No,

in this, this is

okay with me, everyone, you all came back, then 10 minutes are there, okay, with, okay, let's go back, let's repeat

the recording, or okay, let's talk about types in terms of

[music].

[Music] is about changes, meaning either or, which are what you have,

meaning more, what is the dividing line between, for example, the comic, about, I have, I have

[music] from them, I have, and they change the amino acid because, I

mean, pro, okay, the frame, I saw [music], a

specific idea, no, they are the guide, maybe the most accurate expression here is, I mean, I did n't have to put a frame, I want to change it, honestly, these, I mean, the expression is frame Fifth, because frame Fifth only has a relation to the code, it might be, I have, they might

even be, they must have,

honor, it might be, these, the shower, be in a region, region And they mean ranging from where above what the dividing line is [music] and this is a difficult thing to understand, but after that, we can see the chromosome clearly.

35 million, we can see it in the microscope, and anything bigger than 35 million, I see it in the normal chromosome and in the band, but I believe now in the chromosome, the second technique, like the fish, we can see less than that, so this is the difference between them, a little, meaning the description is not very

accurate, but I believe that if we want to be more accurate, I say they are phases and short and end all affect the cell, and these may also affect the s, while it may be for a large area, for a large area, okay, which is in areas, let's look at areas where it

may be, it is not

[music]

on it, several, as a

small example, meaning we sometimes have, for example, here, in the hymn, it ends in a j, meaning the last thing, I might have a session here, instead of a j, it became a y Okay, so this means that this is the intron, so this could affect all of this exon, so I'd have an

exocytosis, the whole exon would go directly from here to there, instead of going to here, it would go to the next chromosome. Or I have another case where I could have a retention of the whole intron, meaning instead of this whole exon going from here to there, I'd have a transfer from here to there, and this whole thing would stay

with this intron, which is all one exon.

So I have an ocean, but we got an idea about

[music]

[music]

or I have a case, it's because

most crosses have a way of expressing themselves, we'll talk about it when we talk about the topic of crosses. Please, Amen, Amen, with your hand, please. No, Doctor, but the one who jumped on the laptop, I swear, yes, I swear, it was her, not me. So that means she wants to ask, that means she's educated, it seems she

liked genetics. Okay, nice, that's good. There are cats with us attending the lecture. Six, six, Doctor, may God bless them for you. Okay, now, how to describe genetics? We have one of the problems that always exists in the medical world, which is the process of information exchange. When a doctor writes a report for another doctor, or a doctor

writes a report and sends it to my place, you find that the other place doesn't understand it because the doctor uses a certain terminology. Scientific research needs standardization, or it needs a unified terminology so that we understand each other. What I'm saying is what you're saying, not me saying it. And when someone comes to interpret it, they interpret it. I mean,

we need a standard ruler. I mean, so that, for example, I have fabric and I want to measure it in meters, I have a standard meter and I say, "You have two meters," "You have ten," " You need five meters." I have the same meter, not one meter for each time. I don't use one meter for each time, saying, "One

meter for ten," "One meter for two," "One meter for three." So I need a standard ruler that I can use to express all the measurements. The reference genome is the basis for a reference genome. It requires a starting point: development or a sample reference genome that we all agree upon as humans. We agree that this is the reference genome, the standard by which we determine the

first chromosome, starting from the letter of the nucleotide ( which is position number one) and ending at 260 million nucleotides (for example, C nucleotide). We also need to know exactly what the reference genome contains. This is a very important point: the reference genome is the product of early attempts. Early attempts to build a reference genome began

in 2003. The first attempt to build a reference genome was in 2003, even though the genome sequence wasn't complete. There were many gaps or regions that weren't known. So, the first, somewhat acceptable standard for the reference genome was in 2003. It was called HG16. In the NCP, of course, there's no naming here. There

was a naming system based on what is known as the NCP release. The NCP used to give each version, each copy, or each updated edition of the French gene, a name based on its LEED: NCP LEED 34, 35, 361. Then what changed? They named it JRCH 37, JRCH 38. In contrast, there was the version from the

USCV, or Santa Cruz, California, which you know makes the famous USC GenBrowser. So, the corresponding version was 3, of course, with the same LEED, meaning the same standard, but each one had a different name: Human Genome 16, Human Genome 17, 18, 19, 8. So, here they started to agree a little on the numbers,

but they still insisted on HG. This is the standard, or reference, or reference genome. How was this built? It was built from Publish. It goes so far as to represent the sum of the two different groups after the genome assembly is done. They started to assemble and put together a system until they were able to finally reach the point where, of course, the

male is represented by a chromosome, and here now there is an X chromosome. So here we have the Homo ligand gene, which is at the end. Of course, it's like all of humanity. Okay, now let's get to

this point. Now, when we want to talk about any genetic difference or any allele, we should say that there is an allele present. I mean, I want to talk about a difference in a gene, which is the genome, or the allele, or any gene. I want to say that there is an allele present

and talk about the location, the genomic location, the allele location. But before I talk about this, I have to know that this difference exists, what is its nature, this allele? Is it Homo ligand, or is it genotype? So here I have an expression that we must keep in mind, which is the difference between an

allele and genotypes. So if I have, for example, this is a reference genome for a certain gene, this The gene, let's assume, started from one and ended at, say, 50. In this location, I'll say number 12. I have the reference for the genotype, but I have, for example, in some people or in

my patient, I had, let's say, C, or in a group of patients, I have C. So, the assumption is that when I want to express the people here, I express the few in one way and the genotype in another way. So, for example, here, in the first patient or in the first person,

I have, he has a copy of the father's chromosome, a copy from the father and a copy from the mother. You notice, the chromosome is what is DNA, right? But I'm taking what it is. So, I have, this person has a copy with a T, of course, opposite it, but this is it. And

in the end, I also have, so this person has a phenotype, he has a T, it was Z, meaning it resembles the WYB. We will see this a lot in the SAVE. So, before you do some homework, you will see that you have a Z or Z, or Z, so if I have, this person The

donor of the virus means he has a TT, so the name of the pocket of TT is what is it, so every copy carries it, while this person carries from his father a TT and from his mother a C, so he is an S, he is Z. This is in the well-known case in diseases, and

this is the third person I have, who is an S, meaning he has not the alternative, sesame for accuracy, because we don't know, in some of the things that are made from it, each one comes out, the most percentage of the times, unless the nurse is supposed to be very few, but sometimes

I saw cases where some are not nurses, you find this is like this

[music] Owen, using rules or rules that have been recognized and agreed upon by something they call S. Of course, this is one of the H S play in it. Of course, there are educational materials in it that describe to you how to describe the few in it. There are many very useful materials. The idea is in the sleep clich that the

society recognized, this is my society, that is, what he says, this is an international rule, meaning building, meaning, and your description of the rule is based on the material that you will work in. Do you have the J? So, the chromosome, is it in us? What is its location? And if it's a protein, it gives us the

protein's location. So,

how does the process happen? It's like writing, similar to writing an address on an envelope for sending. So, when I want to write an address to someone, how do I usually write it? Remember when we were little, they used to teach us how to write a letter and write on the back of the envelope? Now, with email, they don't write

many letters anymore. They teach us and show us how to write a letter. They tell you that you have to write the person's name, address, street, and I don't know what city, then the state, then the country, then you start from the smallest to the largest. Here, I start the same thing, but in reverse. Here, we want to mention that I

have the genome, which is in a certain region. For example, it might be Asia here, or it might be Australia here. Then, I want to choose the smallest region in this genome, which is the chromosome. For example, here, it's like United Arab Emirates, country X. Then, what do I put? The gene. The

gene is a Discrete means a neighborhood in a city, for example, Dubai. Then what do I have? The street, the street in its heart, which is the DNA. Then what do I have? The nucleotide, which is the exact address, which is the house number. So, the exact location. It's an address that tells me how to get to the area exactly.

Usually, how do we write it? We usually write here. I mean, if, for example, I want to put the ID for you, these are the three most important things: the ID followed by two dots, followed by the type of sequence, a dot, then the word and the change that happened. So, for example, I put

chromosome 17. I put chromosome 17. Of course, it's 19G, which means I'm talking about a sequence, not a CDN. It's located on this chromosome 17. This location is 7 million, 75,500, and so on. I don't know exactly what this is. And here, exactly, is this location. The position changed. So, it tells me, "A position like this, like this, a change happened

on the chromosome." 17 from G, not A. This is the assembly, of course. They usually put it for us. They put the gene assembly or gene. Usually, they put it directly, which is the risk ID, whether it's the chromosome number or the transcript number, which is the risk ID for messenger RNA or the risk ID

for the protein. Then two dots, then if it's a gene sequence, if it's a chromosome, they put G. If it's a transcript, they put C because it's CDN. If it's a protein, they put B. Then they put a dot, then the position, then the change that happened. So, for example, I have here, it

tells me that on chromosome 17, this is the change that happened. If, for example, look at these examples, here I have a transcription about a protein. It tells me that if we read it, it's on chromosome 23. Of course, this is chromosome 23, which is chromosome 23. This chromosome is clearly taken from a

new one, meaning it knows from chromosome 23, which is 38. The update points are for this potion. I got it from G. Here, instead of a slash, I put the whole gene. Of course, if I have it, especially for some organisms, I can talk about the gene transcript. I have to [music] put this, and here I

have 2 C-bully points at position 4375. It changed from CLT, so I know it's talking about R, about trans. And here I have on the amino acid NP, which is the R protein, which is the protein. This is two points in the P-arginine position 1459. It changed to what? An asterisk. Be careful here, it didn't

change to another amino acid. The asterisk means stop codon. So it tells me that at this position, arginine changed from this mutation. I changed it from arginine to LNG. It means stop codon, or sometimes arginine L termination, meaning it has undergone a transformation from an amino acid to a stop codon. Of course, anyone who wants to learn more about

sleep clenching should go to the HGVS Society to see it, because many people don't know. We use them a lot during our homework. Ultimately, when we look at nature, we find HOS, which is a method to tell me where the mutation is located in the chromosome I want to identify. For example, I have a

chromosome, for example, the gene for the SKU gene. This gene is located on this chromosome. And I have a mutation here. I want to know the location of the mutation here, so I want to pinpoint it. I want to put this chromosome at a specific location and say that I found the mutation at this location and pinpoint it.

But when I want to describe it in the transcript... Its length changed because I had a segment that changed the length. What was at a certain location, for example, 5 million, is no longer 5 million here because the initial and final slopes are much smaller, and the protein's position changed. Although all three are talking about the same mutation, each one

is talking about different coordinates. So, I always have to specify the risk type, the type of mutation, whether it's a chromosome, a transcript, or a protein. I then add the C, B, or G variant, the position, and the change that occurred.

Imagine, everyone, if someone were working on this and had to go looking for its location every time. Now, there are many tools available; you give them a name, and they automatically know where it is and can retrieve it. They can perform a conversion from one to the next. Sometimes, someone might even detect it on the human gene, which is 36. They

might have found it on this gene. I'm using the new one. I have some tools that, on the old site, had this number, but on the new site, the number is the same. We have tools that are nice and useful. They perform the process of determining the value on everything that exists. What is it in relation to? Is it inside,

inside, or in areas other than the code areas? For example, I have a gene that has an X, and I feel that it has a region that didn't accept a codon, or there's a region after it that doesn't accept a codon, or in the areas that we express. Of course, I have a G. If there are regions before it that are called

codons, what do I call them? I say that the first site is C1. Anything before it, I say it's minus. So if I have the mutation here before C1, I say what is in the transcript: NM, such and such, two dots, C, which is minus 10, which is X, I put what is one

minus 10. So I know where I'm talking. I'm talking about what's before the start codon. So if it's an exon, I leave it as it is, which is C, and I put the number because I put a codon, for example, 50, I put X 50. If it's C 70, C 70 Let's assume, hypothetically, that C30 is at the

end of this exon. This exon is short, 36, meaning it ends at 36. Any mutation that occurs after it, if it's closer to the beginning, then it's more appropriate to place it at the beginning of the intron or the end of the exon. Excuse me, this C36 is the reference. So, I'm saying that I

put the reference score for this whole transcript. I'm saying that I put the reference score for this transcript. I'm saying that the first transcript doesn't end, which is at position 36. Then, I put the reference score for this whole transcript. I'm saying that if it's from any LG, if it's before the beginning of the exon after it, then of course, here I

depend on which one is closer, is it in the middle or closer to this? If it's closer to the one after it, meaning closer to the end of the intron, then I say the exon number for this reference score, which is the reference score, which is the reference score, blah blah blah, two

dots, C37, half 10. And you? Notice that C is 36 and C is 37. Assuming I have a supply, when I describe the intron, I need to consider that this is the end of the first exon and this is the beginning of the second exon. Go ahead, Hassan, Doctor. Why did they choose this method?

Why didn't they give, for example, the same as they gave the exon? Well, Hassan, this is a difficult question to answer because the differences in the intron are very hard to control. It's better if you take the exon because you're talking about assigning a number to this intron. For example, if the exon ends

at 36, the intron starts and ends at 3, for example, with a certain number. I think—I don't know if I have a convincing answer to this—but I think that choosing the exon as a reference in this matter is related to the difference in the tones. But let me double-check. Who means the reason, why exactly, why did they choose the X-

reference instead of choosing the intron and naming it the intron? Because the intron is the problem, the problem is that there are many genes, there's disagreement, I mean, let's not answer, I prefer not to answer now, I don't want to say something that turns out to be inaccurate and taken for granted. Let me go back and think, and I'll answer

you, or if you find the answer, I'd appreciate it if you could tell us about it next time, let's see if anyone knows what their logic is in the naming. Okay, we're done with the naming now, let's take the concept topic now, after which we'll move on to the speaker more, let's delve deeper into diseases,

biological effects, or what we said, that it can change the function of the protein, okay, so that I have a problem with the routine, sometimes it can affect fitness, I'm talking about fitness for the tumor, meaning the mutation can be harmful or Lethal because it either disrupts the function of the protein or

destroys the fitness of the organism. In other words, it prevents the individual from living like other people, reproducing, or mating. If the mutation is classified as fatal, it usually occurs. These mutations are present, so they usually

affect those affected at very, very early stages. The stages are in [music]. We often see mutations that I call milder than this.

[music] These are changes in the gene that

create genetic diseases. Most of the genetic diseases we know of are in this category, which is genetic mutations. These are fatal mutations. Mutations that have a significant impact can lead to death, but we see at least one patient whose condition is affected. It affects the required function of this gene. It can affect the fitness

of this organism so that it cannot live, cope, or live in conditions like other members of society. The third type of The effects of the mutations we were talking about, they gave us a specific mutation. We talked about the mutations, a mutation in ASPS9. This mutation leads to this patient not dying from

anything, but he has something, he's not sick, he's a normal person, he does n't produce a large amount, meaning he doesn't have high cholesterol at all, it's very low, and

I have a level of this,

whether they are

[music] or I mean, the mutations might affect the function of the protein or affect the quantity of the protein. The function, I might not have this much, most mutations [music] or I might have mutations in a way that many patients have, they gave me a new protein. This new protein is toxic. This new protein means it has a different function. It does

n't mean a different function, or the word function means a respectable function, a line of function has a new one, meaning that our thinking is always that there is a gene that is working and a gene that is turned off. No, no, sometimes mutations don't turn off the gene, they don't decrease it, they make it change.

This function, in this context, means that sometimes, for example, I have mutations where there's a break at the end of a gene. This gene, at the end of its exon, if a mutation occurs, it doesn't have what's called a "stop codon," meaning it's not eliminated, it doesn't become degenerate. So, it's clear that

because the mutation is at the end, let's say it has a stop codon. I get a protein structure, a protein shorter than the normal protein, and I get a good amount of it. But this shorter protein, the one with the stop codon, has a structure that's different from the normal protein, and it has a

different structure. So, it gives me a function effect that I didn't expect, and an effect that's mostly without effect, meaning the absence of the protein. Gene function doesn't mean that there's an increased function; it means a new function. Therefore, the more accurate expression is what "function" means: a decrease in function or absence of function. "Function"

means new, meaning something new has happened to this protein, which

is the

answer. Cancer often involves mutations in the somatogenesis, such as C-reactive protein (CRP) and PCR. Most of these mutations result in a new gene function, meaning the protein either becomes phosphorylated without stopping, leading to uncontrolled growth or suppression. The second category, variability, involves a

change in the amount of protein. Here, the protein itself doesn't change in terms of its structure, nor does a mutation occur within it, but its quantity is different. These are the most common mutations related to the process, whether in specific areas or within a particular process. They may be present in some of them, but not

necessarily. As we mentioned, they are related to the process,

whether through a specific process or otherwise. We've now

covered the relationship and impact of these mutations. We will now move on to a topic where we will discuss diseases and

any illness that can affect a person, whether in the embryonic stage or later in life. In childhood or adolescence, we talk about a change in the nature of the change. For example, the kidneys might stop working properly, the blood might stop carrying oxygen, or the brain might stop sending signals or start sending signals. There's a change from the

normal state. So, we usually describe the disease by its mechanism. We describe exactly what changes occurred, and then we think about the factors that caused this change, those that affected kidney function, liver function, or receptor function. So, the

change might have occurred

over a long period,

or the effect might have been due to a combination of these factors. All diseases are described by these factors, meaning either one plays the biggest role, or they play a combination of them. Now, we have a famous expression you've probably heard of. It

means it has an apparent effect, meaning from birth. Who has an answer?

There are genetic diseases, and to some extent, it's true. Who understands this?

So, what's the difference between the two? Can someone explain it to me? What's the difference between diseases? When we talk about a hereditary disease, it's something that's inherited. It's the gift that was taken from the L chromosome, the pattern, and it's present in every chromosome, in every gene in the body. When we talk about genetics,

it includes the hereditary disease and the genetic diseases that occurred after this process. It's present

only in the area where the mutation happened. So, there's a mutation, meaning it's inherited. It's close, but it needs more clarity. Can I differentiate between a hereditary disease and a genetic disease? [Music] Doctor, a genetic disease can occur at any point in a person's life, while a hereditary disease must be inherited from

either the mother or the father. It must be present from the fetus because it's inherited. So, a hereditary disease can occur due to any external cause or a normal cause. Can I consider every problem to be just one? Diseases that originate from mutations in genes, whether on a chromosome or a gene, can be inherited

or acquired, like cancer. Cancer is a genetic disease, meaning it comes from a genetic mutation that develops later in life through radiation or other means. It's a defect in genes that stop functioning properly, resulting in disease. But does this person, who is 60, 70, or 80 years old, inherit it from their father? No, they didn't inherit it from their father; rather, their

genetics changed due to environmental factors. Sickly anemia, on the other hand, is a genetic disease, but it is inherited. Therefore, to be precise about the difference between the two, every genetic disease is inherited, while not every genetic disease is inherited from the parents. Now, regarding congenital diseases, I want to know more. As Bayan said, and her statement is somewhat true,

congenital diseases are not necessarily genetic, or they might be... There are some diseases I have that appear at birth, meaning diseases and disorders that appear at birth. The expression "at birth" is correct; it's a group of diseases related to childhood that appeared when... If we look at the classification of diseases, we find there's an overlap. I have

many diseases that are neither inherited nor genetically defective. They might be, for example, a bacterial infection or a disorder,

or... I don't have a specific condition during birth. I have many diseases that are

completely unrelated, not inherited, and there's no change in them. I don't have a

problem in childhood, but a problem arises when a major symptom appears. Most diseases appear in the early stages of childhood, in later months or years, immediately

after. I also have

Down syndrome, which is a genetic disease. It's a genetic disease because I have a defect in the gene; I have a chromosome that's defective. But this disease is not inherited. And of course, I have a large list of things, and

I have a list of

diseases as a definition, by the doctor. I mean, there are some things, you know what the rule is that we said, that some are not all the same. Here, there is a problem with the picture. Here, some are not, I think, not correct. I mean, in my opinion, I expect you to say, until you

raise your finger, which is the rule that he said, that everything is correct. Yes, yes, correct, but here, some of them are shown outside, not correct. I mean, in my opinion, this drawing has an error. I mean, it's true, not every jake is correct, and not every kung is, or just every one. I

mean, this yellow thing here, I think it's not accurate in the description. This needs what I got from the source. This is me, Subhan Allah. I expected you to talk about this. Okay, the kjur, which they sometimes call, or which has more than one name. Of course, holders are a problem. I consider them a problem in developing countries. We

will talk about why the problem is more in developing countries than in shops. Of course, these There are approximately 5 million new births annually, according to estimates from the 2016 BP. Some of these are

very common, some are quite rare, and some require further

investigation. If we classify them as diseases, I

find that I have two types, and I have [music] [

music] [unclear ...

They appear at different ages, but their percentage is small. However, most of the diseases are related, meaning why? Because genetics isn't the only factor that plays a role in the appearance of certain conditions, or let's say, in the postnatal

period. Let's also consider the pre-pubertal period, which is when I experience symptoms such as anemia. These conditions don't appear immediately after birth, but rather a few months later. Some diseases appear after a year or two. These are single-gene disorders. Notice that they also have another period of appearance, which is the period we call puberty. Before the disease appears, there's a period of dormancy, and then it appears again a

little later. These are some of them, especially those that are theorized to be needed, like, for example, diabetes, heart disease, and some other diseases. But only about 80% of them appear at an age that is from zero to approximately 12 years old. During this period, they appear. 14, according to the definition of the condition,

means that many people with chromosomal abnormalities have a connection to the condition. They appear at 12 and 1. For example, a while ago I had a case of someone who had a son and a daughter. They married their cousin, and both were 14 years old. I'm telling you, at the exact same age, the

symptoms appeared in both of them. Of course, they had a type of what is known as type 3.

[Music] Why is it that? Why?

How do you mean, Doctor? I mean, we don't see them again, or we see them very rarely. Why is the chromosomal abnormality so prevalent? I mean, in most cases, it's during the embryonic development stage. It's rare, but important. We might find it in every million or every thousand people we examine. We might find a

chromosomal disorder. There are adults, but we find it a lot in fetuses because, Doctor, most of them are stillborn. They die at a young age, or they might die before they even develop. There's a hormonal imbalance, so we do n't see them. Why do they die? Someone else wanted to answer besides me. I

heard another voice. Who else has a question? Why did they die? Maybe the body doesn't have time to repair them, for example. Why do these die?

Because the effect on them is less. Why is the effect less because they are single, single genes? So another gene can replace it, but a whole chromosome? There's no other chromosome to replace it. May God guide you. I'm talking about a change, like I say, a chromosome or a large part of a chromosome is lost. It has

50 genes inside it. It's not possible that all 50 genes are non-critical. It's not possible. So, when we affect one gene, it might cause a problem if it's critical, but the person can somehow recover and live. But when a part of me is lost, the damage is in some chromosomes, in some chromosomes, in a small part. From it

directly, there's no room for death, meaning there are some chromosomes. So, for example, you might notice, have you ever heard of someone with Down syndrome (Type 8), Down syndrome (Type 6), or Down syndrome (Type 17)? These happen, but we don't actually see them. Have you ever heard of a child being born with Down syndrome (Type 6), Down syndrome (Type 15)? No,

honestly. Who are the well-known cases? The cases that can reach the point where they are born with this one? And who is the second? Edward Sims. What is Down syndrome? Edward? People, what people? Maybe 12 or 10? No, Edward. 19? No, I forget. 18? And who is the third? There are only three cases:

13, 18, and 21. 13 is called what? It's called Patau syndrome. I have three cases, which is Down syndrome. 21 is Edward syndrome and Patau syndrome. With Down syndrome, you can live until the age of 20 or 30. Patau and Edward don't live that long. It's very rare for them to live longer than a year because it's very rare. For

example, if I have a single chromosome deletion, it's not possible. I might have a shortened chromosome, for example, chromosome 16, which I think results in a shortened arm, a small head, and developmental delays. I might live, but I don't have chromosome 17 or 20. I mean, the deletion means they won't survive. So, the

majority of chromosomal disorders, whether they occur in the early weeks of life ( note that in the first few weeks), are said to affect about 50 % of those born before the first week. About 30% of them are born with a lower number of deletions, and some live for short periods before dying. The

only ones who survive are those with chromosomal abnormalities. These are rare cases, including Down syndrome, which is one of the well-known deletions in chromosomes. Number 16, in how many cases are known, meaning very famous, besides them, no one else can live in the chromosome, aberration, and these are mostly not, in most cases, they are,

meaning they are present during the stage of fetal formation. I want to share with you this, this is talking about

childbirth, I have so many of them,

why are they in some areas, their presentation is huge, meaning how many out of every thousand newborns have them? You notice here that in Africa, the presentation of newborns with sickle cell anemia is very large for areas, for example, like West Africa. The red color is almost not present, and if it is present, it is significant. So

notice, you are the one who has the glucose [music]. This is one of the famous cases, of course, favism. We may have it very common in our country because it is present in Africa, but in our country it is very common in coastal areas. The average sickle cell anemia is one of the congenital diseases that come from

consanguineous marriage. Notice here one of the things, this It's the eastern Mediterranean region, we're Syria, Lebanon, the Arab countries. Look at the Arab world, how many

diseases do we have? I mean, compared to three regions like Western Europe, we have very large numbers of these rare cell disorders. Of course, to some extent, they're common to everyone. So, usually, most rare cell disorders are related to conditions like Down syndrome and others. These are a group of people who are... well, you know. So, you find almost all populations are susceptible to the same

thing. Then, I have a common factor because there are also social conditions and consanguineous marriages here. To some extent, it's common, almost the same percentage. But if you notice, the highest rates are for older people

because they might marry at an older age. They marry at a later age. I mean, Europeans usually have a childbearing age above 35. I know many, like colleagues, who had children at 35 and 4. So, of course, a later age at having children increases the risk of Down syndrome in particular. There's also another point to note about this curve:

if we're talking about formation disorders or other things, it's supposed to be... What does " stable" mean for everyone? Of course, here it could be the factor of delayed posterior angles, which increases here. Congenital anemia increases here because this is a little radioactive in Africa, which is very high because it protects against malaria, so it's a lot. Okay, so

why is it? Of course, here phosgene is more because we also have it in our region. So why is it the Congenital Disorders? Here I have a little, I mean, for example, in the Ice Meter or in the Igea, it's a little higher than in these regions, which are the West Pacific Region, and here Europe in

general, and here Western Europe. Why in these three places and in America, I mean in the developed countries, this and this and this region, and this region is a little higher than this region and higher than the Igea region? Why is it the Congenital Disorders? So what factor could play a role in

increasing or decreasing the profile? Here it's a human factor, be careful. It could be the nature of their food, Doctor, it could be. But there's another very important thing here, Doctor, radiation, and these are the things they are exposed to. They have more because they are developed countries. No, they are less, they are less than here. I mean, notice that

this region, Western Europe and the West Pacific, is a little less than this region. I am a little less. The reason is very simple. Do you know why? Because many of these developed countries have screening programs during pregnancy. These programs are exempt or covered by the state, so they are very careful about them. No

woman who gets pregnant in a European country who is over 30 or 35 goes and does something other than an ultrasound. They do a gestational ultrasound or a mammogram, which is covered by insurance. So, if they find a problem, what do they do? They do an abortion. When they do an abortion, it doesn't show up

in the baby because, what they say here is the state birth, not the one who was born with the defect. So, they have fewer affected babies because they have what? Because they have a program to screen these babies during pregnancy and remove them. Of course, the image The real disaster here is the systemic outage.

What is systemic outage? What happens to these congenital conditions? These orders, by tips, of course. Here I have four or five outages. But here, a curative condition becomes a curative condition. It develops a condition, you know, it's a

disability. It's a

birth defect. Notice here that some of the worst cases are present.

In Africa, notice that I have a curative condition with a small amount of blood, and a higher amount. Death within the first five years is very high. But in Western Europe, deaths within the first five years are very low. The majority of cases here are more common. I have a

group of cases, and I have a higher termination rate. It's evident during pregnancy. This indicates that we are leaving the matter here to chance. I mean, I don't have screening during pregnancy to make a rash if someone has a problem, nor do I have full-up support during birth to treat them and prevent death within the first five years. For example, let's suppose a

child is born with a condition. Which is a European country, if it's less than a month, they'll know, and within three months they'll have done something about it. But here, it's like, we have many diseases that can be treated within the first five years. I'm not talking about genetically treating them, I'm not saying the

disease is genetic, no, at least stopping the deterioration in the patient. But it doesn't happen here. [Music] So, in most cases, notice here, the outcome is much better in the stint or in the other California region. Okay, let's go with the time. Here we're done. We'll be done with the lecture because the second one is

at least half an hour. I'm going to get into the second topic, which is the topic of the relationship between reading the Rh factor, and this needs some focus. I don't want to leave it like this quickly. But before I finish, I want you to do the following. Okay, I want you to do the

following. You see these?

You see the slide I have? Yes, Doctor, the RNA is full of chromosomes. I mean, we're just being The course will talk a lot about [topic], and there are many projects where we'll discuss [topic], [topic], [topic], [gene disease association], and [face]. So, I want you to prepare yourselves now for these [electronic resources]. You will be divided into three

groups. Group B will choose your names; each group should have three people. The group name should be [ name], meaning a dynamic name. Group R will take the [

topic] and present to us next week for about fifteen minutes on [topic], [what is] [topic], everything on [topic], what is [topic], [topic], [topic], [what is] [topic], ...

Regarding the NEP, how will you benefit from the ohms and vice versa? I mean, how do you connect the work from the ohms together? Each group will have a 15-minute presentation, then a 15-minute presentation, then a full hour. Okay, I'll

send it to you on WhatsApp. I'll

send you the link to the lecture recording again. This recording is just for downloading from the university. The university gives me more time. Agreed? God willing, we'll succeed. The slides professor sent it to us, God willing, and gave us the answer. Okay, professor, I can upload the recording to a download site. You can download it from there. But if

I leave it on the cloud via the link, after a week I'll remove it. I'll wait until it arrives late, maybe two hours later, to do some work. Thank you.