摘要
目的 探讨胰岛素受体基因外显子17与多囊卵巢综合征(PCOS)发病的关系。方法对33例PCOS患者(PCOS组)和28例因单纯输卵管原因或男性不育的不孕妇女(对照组)的胰岛素受体基因外显子17进行PCR扩增、单链构型多态性电泳分析,及等位基因分布频率比较。同时对各基因型患者进行内分泌检测。结果 两组胰岛素受体基因外显子17的1008bp处,均有T基因型向C基因型(T→C)的突变,均发现了3种基因型,即T/T、C/T、C/C基因型。PCOS组C/C基因型为39%,对照组为11%,两组比较,差异有统计学意义(P<0 .05 );PCOS组C/C基因型肥胖患者为47%,非肥胖患者为33%,两者比较,差异无统计学意义(P>0 .05)。PCOS组合并胰岛素抵抗患者为50%,无合并胰岛素抵抗患者为36%,两者比较,差异无统计学意义(P>0 .05)。PCOS组患者胰岛素敏感指数,T/T基因型患者为0 .038±0 .016,C/C基因型患者为0 .024±0 .010,C/T基因型患者为0 .028±0 .014,C/T基因型及C/C基因型与T/T基因型患者比较,差异有统计学意义(P<0 .05);T/T基因型与C/C基因型患者比较,差异无统计学意义(P>0 .05)。胰岛素受体β亚基表达及血清黄体生成素、睾酮水平, 3种基因型患者比较,差异均无统计学意义(P>0 .05)。
Objective To investigate insulin receptor (INSR) genotype exon 17 frequencies in women with polycystic ovary syndrome(PCOS) and to elucidate its role in the pathogenesis of PCOS. Methods The study involved 33 women with PCOS and 28 healthy control women who were genotyped for polymorphism of INSR gene exon 17 by single strand conformation polymorphism (SSCP) analysis. Body mass index (BMI), insulin sensitive index (ISI), the expression of INSR beta subunit, and serum concentration of luteinizing hormone(LH), total testosterone between the genotypes were compared. Results (1) The T -to- C mutation was observed in the INSR gene exon 17 (1008 bp). The frequency of the C/C genotype was significantly higher in patients (39%) than in the controls (11%) (P<0.05). There was no significant difference in the distribution of genotypes between obese PCOS and non-obese PCOS, and between PCOS with insulin resistance (IR) and PCOS without IR. (2) In comparison of mutation genotype groups with wild genotype(T/T), ISI was significantly decreased (C/C genotype, P<0.01; C/T genotype, P<0.05), and no significant difference was observed in the other indices. Conclusions There is polymorphism in INSR gene exon 17 in patients with PCOS. This variant leads to increased risk of IR in women with PCOS. It does not influence the expression of INSR beta subunit.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2005年第5期323-326,共4页
Chinese Journal of Obstetrics and Gynecology
