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柯纪定, 柯路, 王勇, 吴效科. 多囊卵巢综合征与17β-HSD5基因多态性关系[J]. 中国公共卫生, 2007, 23(9): 1119-1120. DOI: 10.11847/zgggws2007-23-09-48
引用本文: 柯纪定, 柯路, 王勇, 吴效科. 多囊卵巢综合征与17β-HSD5基因多态性关系[J]. 中国公共卫生, 2007, 23(9): 1119-1120. DOI: 10.11847/zgggws2007-23-09-48
KE Ji-ding, KE Lu, WANG Yong, . Relationship between 17β-HSD5 gene polymorphism and polycystic ovary syndrome[J]. Chinese Journal of Public Health, 2007, 23(9): 1119-1120. DOI: 10.11847/zgggws2007-23-09-48
Citation: KE Ji-ding, KE Lu, WANG Yong, . Relationship between 17β-HSD5 gene polymorphism and polycystic ovary syndrome[J]. Chinese Journal of Public Health, 2007, 23(9): 1119-1120. DOI: 10.11847/zgggws2007-23-09-48

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

  • 摘要: 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。

     

    Abstract: Objective To investigate the polymorphisms of the Type 5 17-hydrox ysteroid.dehy drogenase(17β-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 polymer ase chain reaction-restriction fragment length poly morphism 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.

     

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