The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.

ABSTRACT:

Background

The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the prevalence of premutation/full mutation in two ethnic groups differing in their consanguinity rate: high versus low consanguinity rate (HCR vs. LCR).

Methods

The CGG repeat allele size and AGG presence were measured in 6,865 and 6,204 females belonging to the LCR (5%) and HCR (>45%) groups, respectively, by Tripled-Primed-PCR technique.

Results

A lower prevalence of the premutation was observed in the HCR (1:158) as compared to the LCR group (1:128). No full m

SUBMITTER: Manor E 

PROVIDER: S-EPMC6785435 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature