TARGETED INVESTIGATION OF DISTAL XQ IN RETT SYNDROME

RETT 综合征中远端 XQ 的针对性研究

• 批准号: 6697237
• 负责人: N. CAROLYN SCHANEN
• 金额: $ 18.2万
• 依托单位: ALFRED I. DU PONT HOSP FOR CHILDREN
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-01-01 至 2006-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6697237
• 关键词: Rett syndrome; chromosome aberrations; clinical research; cytogenetics; developmental genetics; disease /disorder etiology; family genetics; fluorescent in situ hybridization; gene expression; gene rearrangement; gene targeting; genetic carriers; genetic mapping; human genetic material tag; human subject; microarray technology; molecular cloning; polymerase chain reaction; representational difference analysis; sex chromosomes; sex linked trait; southern blotting

DESCRIPTION: (Adapted from investigator's abstract) Rett syndrome is a neurodevelopmental disorder affecting 1 in 10,000-15,000 females worldwide. Apparently normal at birth, girls with Rett syndrome undergo developmental regression and acquire a neurologic and behavioral profile which has been used to define diagnostic criteria for the disorder. Although Rett syndrome generally occurs sporadically rare familial recurrences indicate a genetic basis for the disorder. Several features are consistent with an X-linked dominant locus including: (1) the exclusive occurrence of the classic phenotype in females; (2) the identification of severely affected males in Rett syndrome kindreds; (3) mother to daughter transmission; and (4) non-random X-chromosome inactivation patterns in nonmanifesting obligate carrier females. Exclusion mapping data from these rare families with recurrent Rett syndrome localize the gene to the distal long am of the X chromosome (Xq27.3-Xqter). The focus of this proposal is the identification of the causative gene using combined molecular and cytogenetic approaches. Based on their previous work and the milieu and resources of the new Human Genetics department at UCLA, they are in an excellent position to perform these studies. The investigations will test three primary hypotheses using combined molecular and cytogenetic approaches.

描述：（改编自研究者摘要）Rett综合征是一种