摘要
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 explore the molecular mechanism of insulin resistance in the patients with polycystic ovarian syndrome (PCOS). Methods: Polymerase chain reaction, silver staining-single strand conformation polymorphism(PCR-SSCP) and DNA direct sequencing were used to detect the mutation of insulin receptor(INSR) gene in exon 17～21 with the abdominal wall adipose tissue from 31 patients with PCOS (PCOS group) and 30 patients with pure hysteromyoma in reproductive lift (Control group). Results:Twenty-two variant SSCP patternsin exon 17 of INSR gene were detected. Direct sequence analysis of exon 17 showed that homozygous nonsense mutation was two alleles single nucleotide polymorphism(SNP) at the codon 1058 (CAC→CAT). Exons 18～21 were not detected with any significantly mutation. The INSR gene His^(1058)C→T substitution collecting rate and insulin resistance were significantly higher in the PCOS group than in the control group (P=0.0293, P<0.05, P<0.01). Conclusion: It is suggested that the SNP in codon 1058 of the INSR gene might be related with the insulin resistance in PCOS patients, which has hereditary tendency. And the missense mutation,nonsense mutation and frameshift mutation at exons 18～21 in tyrosine protein kinase region of INSR gene for PCOS patients were not frequently observed.
出处
《生殖与避孕》
CAS
CSCD
北大核心
2003年第5期270-274,321,共5页
Reproduction and Contraception
基金
国家自然科学基金(30100200)
