GENETIC STUDIES OF SPERMATOGENIC FAILURE IN HUMANS

人类生精失败的遗传学研究

• 批准号: 6131942
• 负责人: David C. Page
• 金额: $ 34.63万
• 依托单位: WHITEHEAD INSTITUTE FOR BIOMEDICAL RES
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-05-10 至 2005-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6131942
• 关键词: fertility; gene deletion mutation; gene expression; genetic disorder; genetic mapping; human subject; male; male reproductive system disorder; nucleic acid sequence; point mutation; polymerase chain reaction; sex chromosomes; sperm; spermatogenesis

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.

描述（改编自研究者摘要）：广泛、长期 本申请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是健康的， 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，生精失败的原因无法查明 礼物许多研究已经讨论了感染性疾病的可能作用。 药剂、免疫过程、精索静脉曲张、化学损伤或其他生理损伤。 或环境因素。相比之下，本申请关注于 遗传因素更具体地说，这个应用程序将测试假设 在特定的X-连锁基因和Y-连锁基因中的未知突变， 不明原因的生精失败的重要原因， 男人一千名生精障碍的男性将接受基因缺失检测 或位于X或Y染色体上的30个候选基因中的点突变。