抗苗勒氏管激素及其Ⅱ型受体的基因多态性与多囊卵巢综合征发病的关系

目的探讨抗苗勒氏管激素（AMH）Ile”Ser及抗苗勒氏管激素Ⅱ型受体（AMHR2）-482A〉G多态性与多囊卵巢综合征（PCOS）发病的相关性。方法采用聚合酶链反应（PCR）和DNA测序方法，检测103例PCOS妇女和79例正常排卵妇女AMHIIe”Ser和AMHR2-482A〉G的基因型分布，并采用酶放大化学发光及酶联免疫吸附试验（ELISA）等方法测定血清激素。结果PCOS组和正常对照组的AMHIIe”Ser和AMHR2-482A〉G的基因型分布比较，差异无显著性（P〉0．05）；PCOS组AMH的Ile／Ile、Ile／Ser和Ser／Ser3种基因型的血清AMH水平分别是（11．0±4．2）、（13．4±6．9）和（17．6±6．5）ng／ml，差异有显著性（P〈0．05）；PCOS组AMH水平与对照组比较，差异有显著性（P〈0．001）。结论AMHIIe”Ser及AMHR2的-482A〉G多态性与PCOS发病可能不相关，PCOS组血清AMH水平明显高于正常排卵妇女，AMHIIe”Ser的多态性可能是影响PCOS妇女卵泡期AMH水平的因素之一。

Relationship between polymorphism of anti-mullerian hormone,anti-mullerian hormone receptor type Ⅱ and polycystic ovary syndrome

Objectives To investigate the relationship between anti-mullerian hormone(AMH),anti-mullerian hormone type II receptor(AMHR2)and polycystic ovary syndrome(PCOS)in Chinese women.Methods A total of 103 patients with PCOS and 79 healthy controls were recruited in this study.Polymorphisms and genotype of AMHIle49Ser and AMHR2-482A>G were determined by polymerase chain reaction(PCR)and DNA sequencing.Serum hormone concentration was measured by ELISA.Results No statistically significant difference in the distribution of AMHIle49Ser and AMHR2-482A>G genotypes was found between PCOS group and control(P>0.05).Patients with PCOS have higher serum AMH levels than controls(P<0.001).Carriers of the AMH Ser49 allele had higher serum AMH levels on follicular phase when compared with non-carriers in PCOS patients(P<0.05).Conclusions AMH and AMHR2 polymorphisms may not associate with polycystic ovary syndrome.Polymorphisms in the AMH genes are associated with follicular phase AMH levels in PCOS patients.