多囊卵巢综合征与17β-HSD5基因多态性关系

Relationship between 17β-HSD5 gene polymorphism and polycystic ovary syndrome

目的研究多囊卵巢综合征(PCOS)表型与17β-类固醇脱氢酶基因(17β-HSD5)的单核苷酸多态性(71A→G)关系。方法收集119例多囊卵巢综合征患者和102例非多囊卵巢综合征女性血液标本,并记录多囊卵巢综合征患者临床资料、身高、体重;分离血清测定生殖激素;分离外周血淋巴细胞提取总DNA;特异引物扩增后限制性酶切(PCR-RFLP),电泳分离,溴化乙锭(EB)染色分型。结果与高加索人的17β-HSD5-71(A/A∶G/A∶G/G=39∶47.5∶13.6)不同,中国人G等位基因为稀有等位基因。在119份多囊卵巢综合征标本中只发现1次G等位基因杂合体,在102份非多囊卵巢综合征标本中未发现G等位基因。含有等位基因G的患者血清总睾酮(T)为3.9 nmol/L,孕酮(P)为6.2 nmol/L,雌激素(E2)为529.8 nmol/L,体质指数(BMI)为24.2 kg/m2,黄体生成素/卵胞刺激素(LH/FSH)为3.6,均显著高于多囊卵巢综合征患者的平均值。结论17β-HSD5-71G(野生型为A)在国外为常见等位基因,而在中国为稀有等位基因,<0.5%。该基因与多囊卵巢综合征发病相关性有待进一步研究。

Objective To investigate the polymorphisms of the Type 5 17 - hydroxysteroid, dehydrogenase （1713 - HSD5 ） genes in Chinese women with polycystic ovary syndrome （PCOS）. Methods Menarche age was recorded. Body mass indices （BMI） were calculated. Blood samples were obtained for single nucleotide polymorphism analyses and hormone measurements. Genotyping of the SNP - 71G of the 17β - HSD5 gene by the polymerase chain reaction - restriction fragment length polymorphism method. Results In general different from Caucasian＇s 17β - HSD5 - 71 （A/A： G/A： GIG = 39 ： 47.5 ： 13.6）, the allele G of Chinese women rare. The genotypic distributions of 17β - HSD5 （A/A, G/A, G/G） in women with PCOS（0. 992, 0. 008, 0, respectively）did not differ from those in controls （1, 0, 0, respectively）. BMI, total T and other reproductive hormones such as FSH, LH, LH/FSH, P and E2 were also similar between the different genotypes of 17β - HSD5 gene in the PCOS subjects. Conclusion There is no association of 17β- HSD5 - 71G（wild type A） with the occurrence of PCOS in Chinese population.