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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 Ｐ Ｃ Ｒ 对４５ 例精液标本和配对的血液标本 Ａ Ｒ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 Ｃ Ｄ Ｇ Ｅ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。
OBJECTIVE: To understand the role of mutations in the Androgen receptor gene in the development of oligozoospermia and the origin of the mutations. Methods: Eight exons of A R gene in 45 semen specimens and paired blood specimens were amplified by P C R. Amplification products were analyzed by agarose gel electrophoresis and polyacrylamide C D G E electrophoresis to detect gene insertions and deletions and point mutations. Results: Among the 45 cases of oligospermia patients, exon A was the point mutation in gene transcription activation area, 3 cases were inserted, 4 cases were inserted mutation and 3 cases were deletion mutation, accounting for 22.2% 1 case of deletion mutation in exon H, 1 case of point mutation in exon G, 1 case of complete deletion mutation in exon E, and 1 case of incomplete deletion mutation. Only 3 of their blood samples were found to be significantly Sub-A insertional mutation occurred. CONCLUSION: Mutation of exon A of gene of androgen receptor gene in gene transcriptional activation region is an important reason for oligozoospermia. Mutations generally occur in meiosis, a few are inherited.