Livshyts G. Allelic polymorphism of INHa, FSHR and FMR1 genes in patients with ovarian dysfunction

The object is the hereditary susceptibility to natural and inducted ovulation impairment. The aim - study of the polymorphic variants in INHа, FSHR and FMR1 genes role in pathogenesis in premature ovarian failure and in individual response development to superovulation stimulation by exogenous gonadotrophin in vitro fertilization cycles. Methods - DNA isolation and purification, polymerase chain reaction, restriction analyzes, sequencing, different kind of gel electophoresis and statistical methods. Results and novelty- the bank which consist of 374 leucocytes DNA samples of patients with ovarian dysfunction and different response to exogenous gonadotrophin stimulation of superovulation as well as in women from different regions of Ukraine who gave birth to a naturally conceived children, under and over 35 years of age. The date about distribution of mononucleotide substitution 769G>A (variant Ala257Thr) in exon 2 of INHа gene, mononucleotide substitutions 919 G>A (variant Thr307Ala) and 2039 A>G (variant Asn680Ser) in exon 10 FSHR gene and FMR1 CGG-repeats copy number polymorphism among this individuals were obtained. The individual response to exogenous gonadotrophin in patients with different genotypes parameters were studed. The association between heterozigous 769G>A (variant Ala257Thr) in exon 2 of INHa gene substitution, homozygous genotype Ala307-Ser680/Ala307-Ser680 of exon 10 FSHR gene and FMR1 genes "high risk" alleles (40-47 CGG-repeats) with ovarian dysfunction and poor response to exogenous gonadotrophin pathogenesis was shown. The diagnostics informativity of of mononucleotide substitution 769G A (variant Ala257Thr) in exon 2 of INHa gene, mononucleotide substitutions 919 G>A (variant Thr307Ala) and 2039 A>G (variant Asn680Ser) in exon 10 FSHR gene and FMR1 CGG-repeats copy number polymorphism as markers for genetic testing was determined: a) with the aim premature ovarian failure development in young women of risk prognosis; b) for prognosis of individual response to stimulation of superovulation by exogenous gonadotrophin in invitro fertilization cycles of assisted reproduction technology programs.