雄激素受体基因CAG多态性与卵巢早衰的关系

The relationship between androgen receptor gene CAG repeat polymorphism with premature ovarian failure

目的:探讨雄激素受体(AR)基因CAG重复序列与特发性卵巢早衰(POF)发病的关系。方法:选择特发性POF患者85例为研究组,健康女性80例为对照组。提取两组患者的外周血DNA,PCR扩增并采用琼脂糖凝胶电泳获取目的基因,进行基因测序,检测每例AR基因CAG重复序列的重复次数。结果:POF组与对照组的最大频率等位基因分别为n=23及n=22;(CAG)n重复次数分别为22.73±3.24、22.03±3.06,差异具有显著性(P<0.05);POF组(CAG)n长片段(n≥23)的发生频率显著高于对照组(P<0.05)。结论:POF患者AR基因CAG重复次数增多,CAG长片段的发生频率增高。AR基因CAG重复序列次数多态性可能与中国汉族女性的POF发病有关。

Objective： To investigate the relevance between androgen receptor （AR） gene CAG repeat polymorphism with the susceptibility of premature ovarian failure （POF）. Method：85 patients were recruited who were diagnosed as idiopathic POF and 80 healthy volunteers as control group. DNA was extracted from peripheral blood from POF patients and con- trol subjects. The genomic DNA was used for PCR amplification. The AR gene CAG repeats were identified by DNA sequencing. Results were reported as number of CAG repeats. Results： The 23 and 22 was the maximum frequency allele in POF and control group. The weighted mean of CAG repeats in POF （22.73 ± 3.24 ） was significantly higher than that in control group （22.03±3.06） （P〈O. 05）. The longer CAG repeat length was significant enrichment in POF patients than that in control group （P〈0.05）. Conclusions：The CAG repeats and the fre- quence of longer CAG repeat length increase in women with POF. It may be pathogenic for POF in Chinese ban women.