The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve

Background Previous studies have shown that there is an association betweenFMR1CGG repeats and ovarian dysfunction. The aim of this study is to assess the association between the number of CGG repeats inFMR1in Chinese patients with premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). Methods This is a cross-sectional, case-control study, which enrolled 124 patients with POI, 57 patients with DOR and 111 normal menopausal controls. The demographic details along with other clinical data were recorded. TheFMR1CGG repeats were analyzed by polymerase chain reaction and microfluidic capillary electrophoresis. Results We could detect two premutation carriers in the POI group (1.6%) and one in the control group (0.9%). No premutation carriers were identified in the DOR group. The frequency ofFMR1premutations was not different between POI or DOR and controls. The most common CGG repeat was 29 and 30, and the repeat length for allele 2 had a secondary peak around 36-39 repeats. The CGG repeats were divided into groups of five consecutive values, and the distribution of allele 1 in the POI group was different from that in the control group (P < 0.001). No statistically significant differences were found for allele 1 between DOR group vs. controls, and for allele 2 between three groups (P > 0.05). Conclusions The study shows that the frequency ofFMR1premutations is relatively low (1.6%) in Chinese women with POI. The distribution of allele 1 CGG repeat in patients with POI showed difference from that in healthy women.