摘要
目的通过对卵巢早衰(POF)患者卵泡刺激素受体(FSHR)基因突变的检测,进一步探讨POF患者的发病原因。方法采用病例对照研究方法,抽取73例来自中国大陆的特发性POF患者(POF组)和月经规律、因输卵管或男性因素不孕患者25例及正常绝经妇女10例(对照组)的静脉血,提取白细胞基因组DNA,采用PCR方法扩增FSHR基因的第7外显子,其PCR产物经限制性内切酶BsmⅠ酶切后,行琼脂糖凝胶电泳,观察有无51bp和27bp条带;并对2例POF患者的PCR产物进行测序,观察FSHR基因的第566位点是否为胞嘧啶(C),以确定该位点C是否突变为胸腺嘧啶(T),即C566T突变。结果POF组患者和对照组妇女PCR产物经限制性内切酶BsmⅠ酶切后,均显示51bp和27bp两条条带;PCR产物经测序,FSHR基因的第566位点为C。结论POF患者和对照组妇女的FSHR基因均未发生C566T突变。我国大陆POF患者FSHR基因C566T突变可能很少见。
Objective To investigate the incidence of follicular stimulating hormone receptor （FSHR） gene C566T mutation in Chinese women with premature ovarian failure （POF） and to explore the etiologies of POE Methods This case-control study was carried out between 73 Chinese women with idiopathic POF （POF group） and 35 controls （control group）, including 25 normal females with a regular menstrual history and 10 normal post-menopause women. DNA was extracted from the peripheral blood of patients and controls. The exon 7 of FSHR gene was amplified by PCR. PCR products were subsequently digested by the enzyme BsmI and then subjected to electrophoresis on agarose gels and stained with ethidium bromide to determine the C566T mutation. DNA samples of random sampling were further analysed by sequencing the PCR products to confirm the mutation. Results BsmI digestion resulting in two fragments of 51 and 27 base pairs was noted for all 73 POF patients and 35 controls. PCR sequencing confirmed that the 566 allele of FSHR gene is C, demonstrating normal FSHR allele. Conclusions No FSHR gene C566T mutation is present in POF patients and controls. FSHR C566T mutation may be rare in Chinese women with POF.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2006年第5期315-318,共4页
Chinese Journal of Obstetrics and Gynecology
关键词
卵巢早衰
受体
FSH
基因
突变
Premature ovarian failure
Receptors, FSH
Genes
Mutation
