Seminario 10 PARTE A Introducción a la Genética Medica - María Paz Bidondo

Hello, I hope everyone is well. My name is María Paz Bidondo. I am part of the teaching staff of molecular biology and genetics at the Faculty of Medicine of the University of Buenos Aires. I am going to share with you seminar 10 whose contents are genotype-phenotype relationship, introduction to medical genetics and standardized nomenclature of pedigree trees.

Since the content is quite long, I'm going to divide this seminar into two parts, two different videos. In this first video we're going to look at part A which will focus on the concept of relationship, genotype and phenotype. And in part B we will see the concepts that follow these two other contents.

Let's strengthen the concepts of genotype and phenotype that you have been working on previously . So, classically, genotype is defined as the set of genes of an individual. It has been estimated that there are approximately 20,000 genes for humans. It includes both nuclear DNA and mitochondrial DNA. And when we talk about genotype, we are talking about what

those variants are for each of those genes. This is the classic, typical definition, the one we will use most often. But keep in mind that nowadays there is a broader concept to the word genotype. We also sometimes use it with extragenic sequences, generally for some association studies. which we will see later when we look at

multifactorial entities and analyze genome-wide association studies, which in English have an acronym that is pronounced "she was". To determine the genotype, in addition to having the DNA of the individual I have to analyze, I have to take into account a reference sequence for humans. What is that reference sequence of the human genome? Well, there are several versions and