GENETIC STUDIES OF SPERMATOGENIC FAILURE IN HUMANS

人类生精失败的遗传学研究

• 批准号: 6520958
• 负责人: David C. Page
• 金额: $ 36.74万
• 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/6520958
• 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（根据调查员的摘要改编）： 该应用的目的是探索遗传缺陷在 人类男性不育症。数以百万计的男人很健康，很少有 或没有精子，导致不育。在大多数这样的否则中 正常男性，无法确定精子发生衰竭的原因 展示。许多研究已经解决了传染性的可能作用 药物，免疫过程，静脉曲张，化学侮辱或其他生理学 或环境因素。相比之下，本申请专注于 遗传因素。更具体地说，该应用程序将检验假设 特定X连锁基因和Y连锁基因中的未鉴定突变是 其他健康的生理衰竭的重大原因 男人。将测试一千名精子衰竭的男性的缺失 或位于X或Y染色体上的30个候选基因的点突变。