Article
FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
Genetics research - 8 Oct 2014
Laitman Yael, Ries-Levavi Liat, Berkensdadt Michal, Korach Jacob, Perri Tamar, Pras Elon, Friedman Eitan
Abstract excerpt
Premature ovarian failure and diminished ovarian reserve have been noted both in female BRCA1/BRCA2 mutation carriers and in carriers of the Fragile X syndrome FMR1 gene CGG repeat size premutation. Based on the observation that BRCA mutation carriers do not harbour long CGG repeats in the FMR1 gene, it was hypothesized that BRCA-associated premature ovarian failure is mediated via FMR1. To test this notion, we...
Topics
- BRCA1 Protein
- BRCA2 Protein
- Female
- Fragile X Mental Retardation Protein
- Genotype
- Humans
- Israel
- Jews
- Mutation
- Primary Ovarian Insufficiency
- Statistics, Nonparametric