摘要
目的检测在中国特发性卵巢早衰(POF)妇女中是否存在抑制素α基因的G769A突变。方法采用病例对照研究方法,对来自中国的特发性POF患者77例和对照组35例,采取静脉血提取DNA,用PCR方法扩增抑制素α基因,其PCR产物经BbvI酶切后琼脂糖凝胶电泳判断有无G769A突变。结果POF患者和对照组均显示130、88和25 bp三条带,均无抑制素α基因的G769A杂合或纯合突变。结论抑制素α基因的G769A突变在中国特发性POF妇女中可能很少见,大部分特发性POF的病因有待于进一步研究。
Objective. To examine whether the inhibin alpha gene G769A mutation is present in Chinese women with idiopathic premature ovarian failure（POF）.
Methods. The study was carried out in 77 Chinese women with idiopathic POF and 35 controls using a case-control study. DNA was extracted from the peripheral blood of patients and control subjects. The inhibin alpha gene was amplified by PCR. The PCR products was subsequently digested by the enzyme BbvI and then subjected to electrophoresis on agarose gels and stained with ethidium bromide to determine the G769A mutation.
Results. BbvI digestion of PCR products was noted for three fragments of 130, 88 and 25 base pairs in all 77 POF patients and 35 controls, thus demonstrating normal inhibin alpha allele. No patient or control was heterozygous or homozygous for the mutant allele.
Conclusion. The inhibin alpha gene mutation may be rare in Chinese women with POF. The etiology of idiopathic POF for most patients deserves further investigation.
出处
《生殖医学杂志》
CAS
2006年第5期289-292,共4页
Journal of Reproductive Medicine
关键词
卵巢早衰
抑制素
基因突变
Premature ovarian failure
Inhibin
Mutation
