ISSN: 2161-1017
+44 1478 350008
Yu An1,2
1Fudan University, China 2Hospital of Harvard Medical School, USA
Posters-Accepted Abstracts: Endocrinol Metab Syndr
Excessive triple CGG repeats in the FMR1 gene have been widely associated with primary ovarian failure (POF). The number of AGG interruptions and the length of uninterrupted CGG repeats were correlated with repeat instability on transmission. The FMR1 CGG repeats and AGG interruption status had been determined by Triplet-Primed Polymerase Chain Reaction(TP-PCR) in 117 POF patients and 82 matched controls. A possible relationship between CGG repeats or AGG interruption and serum FSH concentrations in POF patients and healthy controls was evaluated. We found one POF patient with a premutation allele (73 repeats) in our casecohort (1/117) was observed, while no such mutations were observed in controls (0/82). Other patients and all controls had CGG repeats in the normal range. There was no significant difference of the incidence of intermediate mutations of CGG repeats between POF patients and controls and also no correlation of CGG repeats with the serum FSH concentrations. Moreover, more individuals with POF carried no AGG interruptions than the controls (4.27% vs. 1.83%) but with no statistical significance. This small casecontrol study failed to find association between CGG repeat sizes or AGG interruptions in the FMR1 gene and Chinese POF women. Further large-sample-size study need to be warranted.
Email: ay.fudan@gmail.com