MOLECULAR ANALYSIS OF THE WILLIAMS SYNDROME DELETION

威廉姆斯综合征缺失的分子分析

• 批准号: 2024681
• 负责人: RISA J PEOPLES
• 金额: $ 8.4万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-09-01 至 2002-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2024681
• 关键词: Williams syndrome; animal genetic material tag; chromosome deletion; clinical research; complementary DNA; gene induction /repression; genetic mapping; genetic markers; genetic polymorphism; human fetus tissue; human genetic material tag; human subject; laboratory mouse; molecular cloning; molecular genetics; nucleic acid repetitive sequence; sequence tagged sites

DESCRIPTION (Adapted from applicant's description): The goal of this work is to identify dosage sensitive genes responsible for the Williams syndrome phenotype and to understand their function and regulation. In addition, the mechanisms leading to the high frequency of sporadic deletion formation will be examined. A variety of genetic techniques will be employed to identify, characterize, and correlate genes in the deleted region.

描述（改编自申请人的描述）：这项工作的目标 是找出导致威廉姆斯综合征的剂量敏感基因 表型并了解其功能和调节。 此外该 导致高频率零星缺失形成的机制将 接受检查。 将采用各种遗传技术来鉴定， 表征缺失区域中的基因并将其关联起来。