雄激素受体基因第一外显子CAG重复多态与POF的关联性

The association of androgen receptor gene first exon CAG repeat polymorphism and POF

目的探讨雄激素受体基因第一外显子CAG重复多态与卵巢早衰(POF)的关联性。方法应用聚合酶链反应及变性聚丙烯酰胺凝胶分离技术检测40例POF患者及52例卵巢功能正常的对照女性雄激素受体(AR)基因第一外显子CAG多态,比较并分析其在2组中的分布情况。结果 POF组和对照组的AR基因第一外显子CAG重复次数范围分别为15～30次和14～35次,双等位基因均值分别为22.91±1.94和23±2.17,差异无统计学意义(P>0.05)。AR基因CAG短重复多态(n<23)在POF组和对照组中的分布分别为47.5%和51.92%,AR基因CAG长重复多态(n≥23)在POF组和对照组分布分别为52.5%和48.1%,差异均无统计学意义(P>0.05)。结论 AR基因第一外显子CAG多态与POF无明显相关性,不是POF的主要致病因素。

Objective To investigate the association of androgen receptor gene first exon CAG repeat polymorphism and premature ovarian failure （POF）. Methods Polymerase chain reaction and denaturing polyacrylamide gel separation technology were used to detect 40 cases of POF patients and 52 cases of ovarian function normal control female to analyze the distribution of androgen receptor （AR） gene exon CAG polymorphism between two groups. Results In the POF group and the control group,the AR gene exon CAG repeat range were respectively from 15 to 30 and 14 to 35 times,and the biallelic mean were respectively 22.91 ± 1.94 and 23 ±2.17 ,the difference was not statistically significant （ P 〉 0.05 ）. The distribution of AR gene CAG repeat polymorphism in short （ n 〈 23 ） between the POF groups and the control group were 47.5% and 51.92% , while in long （n ≥ 23 ） were respectively 52.5% and 48.1% , the difference was not statistically significant （P 〉 0. 05 ）. Conclusion The first exon of the androgen receptor gene CAG polymorphism and POF is no significant correlation and it is not the main pathogenic factors for POF.