荆霞??许丽华??陈碧??张维??唐棣??王笑??林志梅??王丽莲??邹琳

[摘要] 目的 探讨特发性卵巢早衰与AMH，AMHR-Ⅱ的基因多态性。 方法 选择2015年6月～ 2017年3月在我院诊断的特发性卵巢早衰患者50例为POF组。另选择健康体检者100例为对照组。PCR方法测定两组AMH，AMHR-Ⅱ基因多态性。 结果 POF组AMH基因突变位点基因型及等位基因频率与对照组比较差异无统计学意义（P>0.05）。POF组AMHR-Ⅱ c.49+10T>G 基因位点GG基因型比例显著高于对照组，G等位基因频率显著高于对照组，c.622-2C>T基因位点TT基因型比例显著高于对照组，T等位基因频率显著高于对照组，c.622-24C>A 基因位点AA基因型比例显著高于对照组，A等位基因频率显著高于对照组，c.1038G>T基因位点TT基因型比例显著高于对照组，T等位基因频率显著高于对照组，差异均有统计学意义（P<0.05）。 结论 AMHR-Ⅱ基因多态性可能是特发性卵巢早衰的重要的发病机制。

[关键词] 特发性卵巢早衰；AMH；AMHR-Ⅱ；基因多态性

[中图分类号] R711.75 [文献标识码] A [文章编号] 2095-0616（2017）12-07-04

Polymorphism analysis of AMH， AMHR- II gene in patients with idiopathic premature ovarian failure

JING Xia XU Lihua CHEN Bi ZHANG Wei TANG Di WANG Xiao LIN Zhimei WANG Lilian ZOU Lin

Reproductive Medicine Centre， Affiliated Hospital of Guangdong Medical University， Guangdong， Zhanjiang 524001， China

[Abstract] Objective To discuss polymorphism analysis of AMH， AMHR-Ⅱ gene in patients with idiopathic premature ovarian failure. Methods 50 cases with idiopathic premature ovarian failure from Jun 2015 to Mar 2017 were selected as POF group. And 100 cases for physical examination were selected as control group. Polymorphismof AMH， AMHR- II gene of two groups was detected by PCR. Results Genotype and allele frequency of AMH gene mutation sites of POF group showed no significant difference with the control group（P>0.05）. The proportion of GG genotype in AMHR- loci II， c.49+10T>G of POF group was higher than that of the control group， and G allele frequency was higher than that of the control group； The proportion ofTTgenotype inc.622-2C>Tof POF group was higher than that of the control group， and Tallele frequency was higher than that of the control group；The proportion ofAAgenotype inc.622-24C>Aof POF group was higher than that of the control group， and Aallele frequency was higher than that of the control group；The proportion ofTTgenotype inc.1038G>Tof POF group was higher than that of the control group， and Tallele frequency was higher than that of the control group； The difference showed significant difference（P<0.05）. Conclusion Polymorphism of AMHR-Ⅱ gene may be an important pathogenesis of idiopathic premature ovarian failure.

[Key words] Idiopathic premature ovarian failure； AMH； AMHR-Ⅱ； Gene polymorphism

特發性卵巢早衰是指无精确原因的，自身免疫抗体正常的，染色体核型正常的女性在40周岁之前出现的性器官萎缩、持续性闭经，伴有卵泡雌激素、黄体生成素升高，雌激素下降的一种综合征[1-2]。我国卵巢早衰的发病率相对较高，而其中有80%为特发性卵巢早衰，患者主要表现为月经紊乱，血管

舒缩功能不稳定，容易出汗、潮热、情绪波动等。目前特发性卵巢早衰的发病机制还不十分明确，可能与遗传、自身免疫因素、感染、代谢异常、环境等有关[3-4]。特发性卵巢早衰尚无明确有效的治疗方法。抗苗勒激素（AMH）属于转化生长因子超家族成员，与人类生殖系统的发育及功能密切相关[5-6]。其与抗苗勒……