Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.

ABSTRACT: In its expanded form, the fragile X triplet repeat at Xq27.3 gives rise to the most common form of inherited mental retardation, fragile X syndrome. This high population frequency persists despite strong selective pressure against mutation-bearing chromosomes. Males carrying the full mutation rarely reproduce and females heterozygous for the premutation allele are at risk of premature ovarian failure. Our diagnostic facility and previous research have provided a large databank of X chromosomes that have been tested for the FRAXA allele. Using this resource, we have conducted a detailed genetic association study of the FRAXA region to determine any cis-acting factors that predispose to expansion of the CGG triplet repeat. We have genotyped SNP variants across a 650-kb tract centered on FRAX

SUBMITTER: Ennis S 

PROVIDER: S-EPMC2683060 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature