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目的探讨黄体生成素β(LHβ)基因突变与多囊卵巢综合征(polycysticovarysyndrome,PCOS)患者高黄体生成素(LH)、高睾酮(T)之间的关系。方法2003年3月至2004年2月郑州大学第二附属医院应用聚合酶链反应限制性片段长度多态性(PCRRFLP)及电泳分离技术,检测118例PCOS患者(观察组)及106例(对照组)患者LHβ基因外显子3区域点突变及其分布,分析LHβ基因点突变与PCOS高LH、高T之间的关系。结果PCOS组LHβ基因第3外显子(exon3)区域存在G1502→A1502的点突变率为37.3%,高于对照组(18.9%),差异有显著性意义(P<0.05)。PCOS突变组T及LH水平显著高于未突变组(P<0.01)。结论LHβ基因在exon3区域G1502→A1502的点突变与PCOS的高LH、高T的发生有相关性,可能是PCOS的致病基因。
Objective To investigate the relationship between LH testosterone (LH) and high testosterone (T) in patients with polycystic ovary syndrome (PCOS). Methods From March 2003 to February 2004, polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and electrophoresis separation were performed in the Second Affiliated Hospital of Zhengzhou University. 118 patients with PCOS (observation group) and 106 patients (control group) Group) patients with LHβ gene exon 3 region point mutation and distribution, analysis of LHβ gene point mutation and PCOS high LH, high T between the relationship. Results The point mutation rate of G1502 → A1502 in exon3 region of LHβ gene was 37.3% in PCOS group, which was significantly higher than that in control group (18.9%) (P <0.05). The levels of T and LH in PCOS mutation group were significantly higher than those in non-mutation group (P <0.01). Conclusion The point mutation of LHβ gene in exon3 region G1502 → A1502 is correlated with the high LH and high T of PCOS, which may be the causative gene of PCOS.