GENETIC STUDIES OF SPERMATOGENIC FAILURE IN HUMANS

人类生精失败的遗传学研究

• 批准号: 6387676
• 负责人: David C. Page
• 金额: $ 35.67万
• 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/6387676
• 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（改编自研究者的摘要）：广泛的、长期的 该应用程序的目的是探索遗传缺陷在 人类男性不育症。数以百万计的男性在其他方面都很健康，但生产却很少 或没有精子，导致不孕。在绝大多数此类其他情况中 正常男性生精失败的原因无法查明 展示。许多研究已经探讨了传染性的可能作用 因素、免疫过程、精索静脉曲张、化学损伤或其他生理因素 或环境因素。相比之下，本申请集中于 遗传因素。更具体地说，该应用程序将测试假设 特定 X 连锁基因和 Y 连锁基因中的未识别突变是 健康状况不明的生精失败的重要原因 男人。一千名患有生精失败的男性将接受删除测试 或位于 X 或 Y 染色体上的 30 个候选基因的点突变。