Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.

ABSTRACT:

Objective

Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).

Methods

This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.

Results

A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%)

SUBMITTER: Ramos C 

PROVIDER: S-EPMC9118958 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature