[Molecular-genetic analysis of natural and stimulated ovulation impairment]

The influence of FMR1, INHalpha1, NAT2, GSTT1 and GSTM1 genes on ovarian function, and their association with POF and "poor response" to exogenous GT after ovulation stimulation were investigated. The carriers of Ala257Thr transition predominated in the studied "poor responders" group. This transition combined with intermediate alleles of FMR1 gene was observed in 1.6% POF patients and 2.5% persons from "poor responders" group but in nobody of the control group. The frequency of deletion in GSTM1 gene in "poor responders" group was significantly higher (p = 0,01) than in normal ovulatory control group. The frequency of Ser680Ser-Ala307Ala polymorphic genotype (22.2%) in "poor responders" group was significantly higher (p = 0.028) than in normal-ovulatory control group (7.7%). The daily dosage of GT in intermediate alleles of FMR1 gene carriers as well in patients with "slow acetylation" NAT2 genotype was significantly higher in comparison to patients without intermediate alleles and patients with "quick acetylation" NAT2 genotype. Quantity of oocytes after ovulation stimulation in women with INHa1 gene Ala257Thr transition was significantly decreased in comparison to patients without such mutation. Further investigations of these genes can play a major role in POF studying and modulation of ovarian response to exogenous GT.