Study Of CYP17α Gene And INSR Gene 17 Exon Polymorphism Of Perhperial Blood In PCOS Patients

Objective to illucidate the pathogenesis of PCOS at molecular level by comparing the CYP17 a gene and INSR gene exon 17 polymorphism in PCOS patients and normal control group. Method to detect basic hormonal concentration of 35 PCOS patients and 38 control women by radioimmunoassay (RIA) method at early menstrual cycle, OGTT and INS releasing test; to detect the CYP17 a and INSR gene exon 17 gene polymorphism by PCR-RFLP method and analyse the results.Results the value of LH , LH/FSH ratio , T amd BMI was significantly higher in PCOS group than the value in control groups. Serum insulin concentration was not coordinated with serum glucose concentration elevation and had insulin resistance in PCOS group.For CYP17 a gene , 9 was integral gene (25.7%), 16(45.7%) was heterozygous carrier , 10(28.6%) was homozygote among 35 PCOS patients while 17(44.7%) integral gene , 19(50%) heterozygous carrier and only 2(5.2%) homozygotes in 38 controls respectively .The mutation of CYP17a was significantly higher in PCOS group than that in control group using X2 test. 23 patients had hyperandrogenism while 12 had normal A level among 35 PCOS, the CYP17a gene mutation was statistically different between this 2 group.For INSR gene, 16(45.6%) was the integral gene, 10(28.6% ) was the heterozygous carrier, 9(25.8%) wsa hemologous pair that carries the substitution in PCOS group while the data was 25(65.8%), 11 (28.9%) and 2 (5.3%) respectively in controls. INSRgene 17 exon mutation in PCOS group was significantly higher than that in control group using X' test. 25 patients had hyperinsulinemia while 10 had normal insulin concentration among PCOS patients. The INSR gene 17 exon mutation rate had no statistical significance among this 2 group.Conclusion even though the CYP17 a polymorphism is not the critical cause for the pathogenesis of PCOS, the homozygous mutation in promoter region of CYP17 a gene can increase the susceptibility of PCOS patients, and may responsible for dysregulation of gene CYP17 a expression, which result in overactivity of steroidogenic enzyme p45017 a ( contributing to hyperandrogenemia, one of the biochemical characteristic of PCOS. INSR gene exon 17 mutation in the trosine kinase domain of the insulin receptor had been shown to cause insulin resistance and hyperinsulinemia.