雄激素受体基因突变与无精症、少精症关系的临床研究

Clinical Study on the Relationship between Gene Mutation of Androgen Receptor and Azoospermia as well as Oligozoospermia

目的:探讨雄激素受体基因外显子A突变与无精症、少精症的关系,为辅助生殖技术的遗传咨询提供依据。方法:选择60例正常男性(对照组)和65例无精症、少精症患者(病例组),采用聚合酶链反应-单链构象多态性分析方法(PCR-SSCP)检测雄激素受体基因外显子A点突变,采用琼脂糖凝胶电泳方法检测插入和缺失突变。结果:对照组中未发现基因突变,突变率为0;病例组中有5例发生基因突变,均为点突变,未发现基因插入和缺失突变,突变率为7.69%;两组比较差异有统计学意义(P<0.05)。结论:雄激素受体基因外显子A突变是引起无精症、少精症的重要原因之一。

Objective： To investigate the relationship between gene mutation of exon A of androgen receptor and azoospermia as well as oligozoospermia, and to provide evidences for genetic counseling of assisted reproductive technology. Methods ： 65 male patients with azoospermia or oligozoospermia were selected as the study group and 60 health men were enrolled as the control group. Point mutation of exon A of androgen receptor were detected using polymerase chain reaction - single strand con- formation polymorphism （PCR -SSCP）, and the insertion and deletion mutation were examined by agarose gel electrophoresis. Results： No gene mutation was detected in the control group, with the mutation rate of 0%, while there were 5 cases with point mutation in the study group, with the mutation rate of 7.69%. The difference between the 2 groups was statistically significant （P 〈 0.05）. Conclusion： Gene mutation of exon A of androgen receptor is one of the important reasons for oligozoospermia and azoospermia.