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目的:探讨多囊卵巢综合征(PCOS)胰岛素抵抗的分子发病机理。方法:应用聚合酶链反应-单链构象多态性银染技术结合DNA直接测序,检测PCOS患者及育龄期单纯子宫肌瘤患者腹壁脂肪组织中的胰岛素受体(INSR)基因17～21外显子的突变。结果:发现22例外显子17的异常电泳条带,经测序分析,证实为CAC~(1058)→CAT~(1058)的二等位单核苷酸多态性。外显子18～21未检测到任何有意义突变。PCOS组与对照组相比较,17外显子His~(1058)C→T替换检出率及胰岛素抵抗程度均明显增高。结论:PCOS患者INSR基因酪氨酸蛋白激酶域18～21外显子的错义、无义及移码突变并不常见,17外显子的C/T SNP可能与多囊卵巢综合征有遗传倾向的胰岛素抵抗状态有关。
Objective: To investigate the molecular pathogenesis of insulin resistance in patients with polycystic ovary syndrome (PCOS). Methods: Polymerase chain reaction-single strand conformation polymorphism (SSR-PCR) and silver direct sequencing were used to detect the expression of insulin receptor (INSR) gene 17-21 in abdominal adipose tissue of patients with PCOS and simple uterine fibroids at childbearing age Sub-mutation. Results: Abnormal electrophoresis bands of 22 exons 17 were found and confirmed by sequencing analysis. The results showed that there was a single nucleotide polymorphism (SNP) of CAC 1058 to CAT 1058. Exon 18 ~ 21 did not detect any meaningful mutation. PCOS group compared with the control group, 17 exon His ~ (1058) C → T replacement detection rate and insulin resistance were significantly higher. CONCLUSIONS: Missense, nonsense and frameshift mutations in the INSR tyrosine kinase domain 18-21 in PCOS patients are uncommon, and C / T SNPs at exon 17 may be inherited in patients with polycystic ovary syndrome Propensity to insulin resistance state.