GENETIC STUDIES OF SPERMATOGENIC FAILURE IN HUMANS

描述(改编自调查人员摘要)：广泛的、长期的 这项应用的目的是探索遗传缺陷在 人类男性不育。数以百万计的男性在其他方面都很健康，但却很少生育 或者没有精子，导致不育。在绝大多数这样的情况下 正常男性，生精失败的原因不能准确地定位 现在时。许多研究已经解决了传染性疾病可能扮演的角色 药物、免疫过程、精索静脉曲张、化学侮辱或其他生理因素 或者是环境因素。相反，本申请侧重于 遗传因素。更具体地说，这个应用程序将检验该假设 特定X连锁基因和Y连锁基因的未知突变是 其他健康人群中不明原因的生精功能障碍的重要原因 男人。1000名生精障碍男性将接受基因缺失测试 或位于X或Y染色体上的30个候选基因的点突变。

DESCRIPTION (Adapted from investigator's abstract): The broad, long-term objective of this application is to explore the role of genetic defects in human male infertility. Millions of men who are otherwise healthy produce few or no sperm, resulting in infertility. In the great majority of such otherwise normal men, the causes of spermatogenic failure cannot be pinpointed at present. Numerous studies have addressed the possible roles of infectious agents, immune processes, varicoceles, chemical insults, or other physiologic or environmental factors. By contrast, the present application focuses on genetic factors. More specifically, this application will test the hypothesis that unidentified mutations in specific X-linked genes and Y-linked genes are significant causes of unexplained spermatogenic failure in otherwise healthy men. One thousand men with spermatogenic failure will be tested for deletions or point mutations in 30 candidate genes located on the X or Y-chromosomes.