AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

ABSTRACT:

Purpose

The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified.

Methods

We retrospectively analyzed 267 premutation alleles for number and position of AGG interruptions, length of pure CGG repeats, and CGG repeat lengths present in the offspring of the maternal transmissions. In addition, we determined

SUBMITTER: Yrigollen CM 

PROVIDER: S-EPMC3990283 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature