Our data shows the prevalence of the Ala307-Ser680/ Ala307-Ser680 genotype in the both groups of patients. The finding should have impact on the delineation of stimulation protocols.
The association of ESR1 PvuII polymorphism (rs2334693) with impaired ovarian reserve was studied by genotyping this polymorphism using PCR-RFLP in patients and two control groups from Ukraine. Statistically significant differences in the prevalence of p-allele frequency (-397T) was seen in the group of patients with impaired ovarian reserve (0.597) compared to control groups I under 35years (0.480) and II over 35years (0.453), both p<0.05. The data suggest that PvuII polymorphism of ESR1 is associated with diminished ovarian reserve.
The purpose of this study was to examine the distribution of two distinct follicle-stimulating hormone receptor (FSHR) variants, Asn680Ser and Thr307Ala, in normaly ovulated group of females from Ukraine. The FSHR gene variants, Asn680Ser and Thr307Ala, were analyzed by PCR and RFLP. The strong linkage disequilibrium between FSHR307 and FSHR680 loci was found (p < 0.0001). The following genotypes have been detected: NN (33.1 %), NS (52.3 %), SS (14.6 %) for Asn680Ser variant and TT (33.1 %), TA (55.4 %), AA (11.5 %) for Thr307Ala variant. Further study on the association of FSHR variant with ovarian dysfunction and individual susceptibility to FSH-stimulation considering our population data would clarify a possible functional role of FSHR307 and FSHR680 loci.
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