Phenotypic variability and genetic susceptibility to genomic disorders.

ABSTRACT: The duplication architecture of the human genome predisposes our species to recurrent copy number variation and disease. Emerging data suggest that this mechanism of mutation contributes to both common and rare diseases. Two features regarding this form of mutation have emerged. First, common structural polymorphisms create susceptible and protective chromosomal architectures. These structural polymorphisms occur at varying frequencies in populations, leading to different susceptibility and ethnic predilection. Second, a subset of rearrangements shows extreme variability in expressivity. We propose that two types of genomic disorders may be distinguished: syndromic forms where the phenotypic features are largely invariant and those where the same molecular lesion associates with a diverse

SUBMITTER: Girirajan S 

PROVIDER: S-EPMC2953748 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature