Seminario 20 Variación numero de copias y técnicas de FISH, MLPA, y CGH ARRAY - Roxana Cerretini

Seminar number 21, eh variation. We're going to talk about the variation in the number of copies and we're going to talk about techniques like fish, MLPA and CGH array.

Copy number variation ( CNBs) is a type of structural variation in the genome that involves differences in the number of copies of DNA segments or regions between individuals of the same species. Here, for example, we can see that in a certain region, individual one, in both copies, has three copies. three numbers of the number of

repetitions is three. In this individual, the maternal copy has five repetitions, the paternal copy has one, and in individual three, the maternal copy has three repetitions and five in the paternal copy. CNBs are therefore copy number variants that are common in the population and are also highly polymorphic, varying from one individual to another.

These NBs can be in intronic, non-coding regions, in regions that are close to promoter areas or enhancer sequences or silencers, uh silencing sequences, uh, that is, they can affect the regulation of gene expression and they can also be in coding regions. We can have two copies of a gene, three copies, four copies.

CNBs can be neutral or they can produce pathogenicity. Whether or not they produce pathogenicity will depend on whether there is sensitivity to the hygienic dose. If there is no sensitivity to hygienic doses, it may not matter whether you have one copy, two copies, or three copies of a gene. But if there is sensitivity to the hygienic dose,

obviously there will be an anomalous phenotype or a