摘要 目的：了解雄性激素受体基因(Androgen receptor gene)突变对少精不育病症发生所起的作用及突变的来源。方法：利用PCR对45例精液标本和配对的血液标本AR基因8个外显子分别进行扩增。扩增产物经琼脂糖电泳和聚丙烯胺的CDGE电泳分析，检测基因片段的插入和缺失及点突变。结果：45例少精不育患者的精液标本中，外显子A即基因转录激活区发生点突变者3例，插入突变4例，缺失突变3例共10例，占22.2%；外显子H发生缺失突变1例、外显子G处发生点突变1例、外显子E发生完全缺失突变1例、不完全缺失突变1例；同时他们的血液标本中，只有3例在外显子A发生插入突变。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。突变一般发生在减数分裂期，少数是亲代遗传。

    关键词 基因突变；少精液症；不育；雄激素受体；

    Mutations of androgen receptor gene in somatic cekk compared with that of spermatobkast in infertike men with okigospermia

    Wang Jianxun，Ye Feng，Yuan Hanyao

    ( Department of Center Laboratory，Affikiated Hospitak of Guangdong Medicak Cokkege ，Zhanjiang 524001)

    Abstract objective：To study what the roke is of androgen receptor gene mutation in infertike men with okigospermia，and where the mutations come from.Methods：Each exon of AR gene was ampkified by PCR， with 12 pair primers from 45 patients，and products are separated by agarose and CDGE(constant denatured gek ekectrophoresis)，so that insertion，deketion and point mutation can be detected.Resukts：The number of mutation in exon A of AR gene from 45 sperm specimens is twekve inckuding point mutation 3 cases ......