摘要
【目的】探讨黄体生成素(luteinizing hormone,LH)β亚基Trp8Arg和Ile15Thr突变与中国人多囊卵巢综合征(polycystic ovary syndrome,PCOS)的关系。【方法】采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术检测113例PCOS患者和68例正常妇女,分析LHβ亚基基因突变与PCOS之间的关系。【结果】PCOS组血清LH、睾酮、游离睾酮及胰岛素抵抗指数(HOMA-IR)均显著高于对照组(P<0.05)。在两组中均有β亚基突变发现,Trp8Arg突变率在PCOS组16例(14.16%),对照组4例(5.88%);Ile15Thr突变率在PCOS组15例(13.27%),对照组4例(5.88%),突变频率在两组间没有统计学差异。两组中突变杂合子与非突变者性激素水平没有统计学差异。【结论】PCOS患者促性腺激素和性激素水平发生紊乱。PCOS组LHβ亚基Trp8Arg和Ile15Thr突变发生率高于正常对照组,但差异未有统计学意义。本研究未发现突变杂合子改变了LH的生物学功能。
[Objective] To determine any association between the point mutation of TrpsArg and Ile16／5Thr in the exons 2 of LH gene and the polycystic ovary syndrome （PCOS） in Chinese women.[Method] A total of 113 PCOS patients and 68 normal ovulatory women with regular menstrual cycles were recruited. The presence of the mutations of the human LH β-subunit was screened by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. [Result]The serum level of luteinizing hormone CLH）, testosterone, free testosterone and HOMA-IR in PCOS group were higher than that in control group, which were statistically significant （P〈 0.005）. The mutation rate of Trp8Arg detected in the PCOS group （16 cases） and control group （4 cases） were 14.16% and 5.88%, relatively, but the difference between the two groups was not statistically significant. The mutation rate of Ile15Thr detected in the PCOS group （15 cases） and control group （4 cases） were 13.27% and 5.88%, relatively. The difference of frequency of mutation was not significant also. There was also no difference found in hormonal levels between the heterozygnus and wild type in PCOS group and control group. [ Conclusion ] PCOS patients have disorders in their gonadotropin and sexual hormone levels. The frequency of the variant LH β-subunit gene in the PCOS group was higher than that in the control group, but the difference was not significant. The presence of heterozygous of the variant did not alter the bioactivity of LH.
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2007年第1期59-62,共4页
Journal of Sun Yat-Sen University:Medical Sciences
基金
国家自然科学基金资助项目(30271367
30300372)
广东省自然科学基金资助项目(31690
21874)
广州市科委资助项目(2004J-C0111)
关键词
多囊卵巢综合征
黄体生成素
基因
点突变
polycystic ovary syndrome
luteinizing hormone
gene
dot mutation
