Seminario 16 Patrones de herencia no clasicos 2 - Tomas Falzone

Well, as I just advised you, it would be good to look at non-classical inheritance patterns one and two together. Now we're going to move on to part two, and in this second part we're going to look at the inheritance patterns associated with dee expansion and imprinting mechanisms. We looked at those of mitochondrial inheritance and now we are going to look at these

two. [Music] Uh, so the objectives we have are to understand the molecular mechanisms, to understand the concept of threshold in triplet expansion, diagnostic approaches and characteristics. So, we're going to see that in the case of triplet expansion, we're talking about diseases that are mainly caused by an excessive amplification of three nucleotides. This

is a genetic disorder caused by this abnormal repetition that changes function or prevents function. And now we're going to see if we're talking about gain or loss of function associated with the gene where the specific expansion occurs. It does not follow the typical patterns observed in classic diseases since these are dynamic diseases. However, and

this must be taken into account, when the mutation that induces the appearance of a phenotype in a family is present, the segregation from there is in a classic way as autosomal dominant or autosomal recessive diseases, depending on the type of expansion that occurs. But let's try to understand that in detail. We are talking about the expressions being

dynamic mutations, given that a region associated with the expression of a gene can have a series of repetitions from 5 to 50, in this case, where we consider them repetitions present in the population or normal repetitions, when there is an amplification of these 50 repetitions, if we enter the range of repetitions from 50 to 200, we can