卵巢早衰患者FSHR C1555A和LHR C1660T基因突变的检测

The detections of follicular stimulating hormone receptor gene C1555A mutation and luteinizing hormone receptor gene C1660T mutation in patients with premature ovarian failure

①目的探讨促性腺激素受体(包括FSHR和LHR)基因突变与卵巢早衰的关系。②方法选择56例湖南籍卵巢早衰妇女为观察组,30例因子宫肌瘤、宫外孕、继发性不孕等疾病住院的月经周期正常的妇女作为对照组。每例抽取外周血5mL,先用氯仿抽提法提取白细胞基因组DNA,然后用PCR-RFLP的方法检测FSHR基因第10外因子是否存在C1555A突变,以及LHR基因第11外显子是否存在C1660T突变。③结果观察组和对照组的基因组DNA FSHR第10外显子的第1555位均为C而不是A,LHR第11外显子的1660位均为C而不是T。④结论 FSHR基因第10外显子的C1555A突变以及LHR基因第11外显子的C1660T突变中国湖南籍卵巢妇女中未检测到。

Objective To investigate the relationship between the gonadotrophins receptor gene mutation and the premature ovarian failure.Methods The premature ovarian failure 56 cases were chose as the experimental group,and 30 cases of menses normal were chose as control group from women with myoma of uterus,uterus outside gestation and secondary sterility.The peripheral blood of 5 mL was exacted in every sample,and DNA of genome was taken out,then PCR-PFLP was used to detect the follicular stimulating hormone receptor（FSHR） gene C1555A mutation and luteinizing hormone receptor（LHR） gene C1660T mutation.Results In the experimental group and control group,1555 site of the tenth exon of FSHR was C not A,1660 site of the eleventh exon of LHR was C not T POF group and s of the experimental control were not found the gene mutation in the FSHR and LHR through the detection.Conclusion The C1555A gene mutation of the tenth exon of FSHR and The C1660T gene mutation of the eleventh exon of LHR were not found in the premature ovarian failure of Hunan province.