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MOLECULAR ANALYSIS OF THE WILLIAMS SYNDROME DELETION

威廉姆斯综合征缺失的分子分析

基本信息

批准号：
2673346
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
项目类别：
财政年份：
1997
资助国家：
美国
起止时间：
1997-09-01 至 1999-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/2673346
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

项目摘要

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）：这项工作的目标是为了识别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，导致零星缺失形成频率高的机制将被检查。将采用多种遗传技术来识别，表征并关联删除区域中的基因。