少精不育患者的雄性激素受体基因突变分析

目的了解雄性激素受体（ＡＲ）基因突变对少精不育症发生所起的作用。方法利用聚合酶链反应技术（ＰＣＲ）对３０例少精不育患者精液标本的ＡＲ基因８个外显子分别进行扩增。扩增产物经琼脂糖凝胶电泳和聚丙烯胺的ＣＤＧＥ电泳分析，检测基因片段的插入，缺失和点突变。结果３０例患者中，外显子Ａ即基因转录激活区发生点突变３例，插入突变４例共７例，突变率为２３３％。外显子Ｈ发生缺失突变１例，约占３３％，外显子Ｇ处发生点突变１例，约占３３％，总突变率为３００％。结论雄性激素受体基因外显子Ａ即基因转录激活区的突变是造成少精不育的重要原因。

Mutation analysis of androgen receptor gene in infertile men with oligospermia.

Objective To recognize the role of androgen receptor gene mutation in infertile men with oligospermia. Methods We amplified 8 exons of AR gene respectively by PCR with 13 pair primers from 30 patients, and the amplified products were separated by agarose and CDGE constant denatured gel electrophoresis] so that insertion, deletion and point mutation coald be detected. Results The amount of mutation in Exon A of AR gene from 30 samples were seven, including point mutation (3 cases), and insertion mutation (4 cases). The mutant rate was about 23%. Only one mutant case was found in Exon H and Exon G, respectively.Conclusion Mutation of Exon A in AR gene plays an important part in infertile men with oligospermia.