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目的:研究抗苗勒管激素(AMH)及抗苗勒管激素Ⅱ型受体(AMHRⅡ)基因多态性在多囊卵巢综合征(PCOS)患者的表达情况;同时分析PCOS不同AMH基因型患者体重指数(BMI)、性激素水平之间是否存在差异,从基因水平探讨PCOS的发病机制。方法:采用聚合酶链反应(PCR)及DNA正、反向测序方法,检测94例PCOS患者(PCOS组)及94例正常排卵患者(对照组)AMH和AMHRⅡ基因型,同时将两组AMH、AMHRⅡ不同基因型患者的年龄、BMI及性激素水平分别进行比较。结果:①两组AMH基因型分布比较,差异有统计学意义(P<0.05),而AMH等位基因频率、AMHRⅡ基因型分布及等位基因频率分布比较,差异均无统计学意义(P>0.05)。②在PCOS组不同AMH基因型患者中,BMI、LH、T间差异有统计学意义(P<0.05),基因型分布类型与BMI、LH、T有关(P<0.05),而与年龄、FSH、E2、PRL无关(P>0.05);对照组年龄、BMI、性激素水平与AMH基因型分布无关(P>0.05)。③对照组和PCOS组年龄、BMI、性激素水平与AMHRⅡ基因型分布无关(P>0.05)。结论:AMH基因的多态性可能与PCOS的发病相关;PCOS患者AMH基因型中G/T表型可能是引起患者肥胖、高雄激素血症的原因。
Objective: To investigate the expression of anti-Mullerian hormone (AMH) and anti-Mullerian hormone receptor type 2 (AMHRⅡ) gene in patients with polycystic ovary syndrome (PCOS). Simultaneous analysis of patients with different AMH genotypes Body mass index (BMI), sex hormone levels are different, from the gene level to explore the pathogenesis of PCOS. Methods: The genotypes of AMH and AMHRⅡin 94 patients with PCOS and 94 patients with normal ovulation (control group) were detected by polymerase chain reaction (PCR) and reverse DNA sequencing. The AMH, Age, BMI and sex hormone levels in patients with different AMHR II genotypes were compared. Results: ①The distribution of AMH genotypes between the two groups was statistically significant (P <0.05). There was no significant difference in AMH allele frequency, AMHR Ⅱ genotype distribution and allele frequency distribution (P> 0.05). ② There was significant difference between BMI, LH and T in patients with different AMH genotypes in PCOS group (P <0.05). The genotype distribution was associated with BMI, LH and T (P <0.05), but not with age, FSH E2 and PRL (P> 0.05). The age, BMI and sex hormones of the control group had no correlation with the distribution of AMH genotype (P> 0.05). ③ The age, BMI and sex hormone levels of the control group and PCOS group had no correlation with the distribution of AMHR Ⅱ genotype (P> 0.05). Conclusion: The polymorphism of AMH gene may be related to the pathogenesis of PCOS. The G / T phenotype of AMH genotype in PCOS patients may be the cause of obesity and hyperandrogenism in patients.