Question

What SNVs would be most likely to create a similar phenotype to the deletion in Chromosome 22(Digeorge syndrome)? EXPLAIN.

Answer 1

DiGeorge syndrome also known as velocardiofacial syndrome is a neneurogenetic disorder which occurs from hemizygous microdeletion 1.5 to 3 megabases on the long arm of chromosome 22.This syndrome provides an opportunity to connect genes to brain to behaviour,which is unique.Copy Number Variation (CNV) is other type of genetic variation which contributes to phenotypic variance.A it is apparent that there are interpopulation differences in gene copy numbers,it was hypothesized that CNV could be comparable to SNV inplaying important roles in adaptation to different environments,suscepible to common diseases and evolution..often SNV can serve as proxies for CNV .But the methods of SNV genotyping and data analysis are much easier than those of CNV s.