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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 explore the pathogenesis of POF by detecting the mutation of follicle stimulating hormone receptor (FSHR) gene in patients with premature ovarian failure (POF). Methods A case-control study was conducted in 73 POF patients (POF group) and menstrual regularities from mainland China. Twenty-five patients with tubal or male infertility and 10 normal controls (control group) The genomic DNA of leukocytes was extracted and the exon 7 of FSHR gene was amplified by PCR. The PCR product was digested with restriction endonuclease Bsm I and then subjected to agarose gel electrophoresis to observe the presence or absence of 51 bp and 27 bp bands. The PCR products of two POF patients were sequenced to determine whether the site 566 of the FSHR gene was cytosine (C), so as to determine whether the site C was mutated to thymine (T) or C566T mutation. Results The PCR products of POF group and control group were both 51bp and 27bp after restriction enzyme digestion with restriction endonuclease Bsm Ⅰ. The PCR product was sequenced and the 566 site of FSHR gene was C. Conclusion None of the FSHR genes in women with POF and controls had C566T mutation. China mainland POF patients FSHR gene C566T mutation may be rare.