MAPPING AND GENE EXPRESSION IN AUTISM REGION ON CH 15

第 15 章自闭症区域的绘图和基因表达

• 批准号: 6521092
• 负责人: JOHN Ray GILBERT
• 金额: $ 37.67万
• 依托单位: DUKE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-07-01 至 2003-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6521092
• 关键词: autism; behavioral genetics; chromosome aberrations; chromosome deletion; chromosomes; clinical research; developmental genetics; family genetics; gene duplication; gene expression; gene mutation; genetic mapping; genetic markers; genotype; human genetic material tag; human subject; linkage mapping; single strand conformation polymorphism

DESCRIPTION: The purpose of this proposal is to isolate genes involved in autistic disorder (AD). The gene hunt will focus on chromosome 15q11-q13 because of recent evidence, some of it from the investigator's laboratory, that this region is linked to AD. The first set of aims is to develop markers from genomic contigs to genetically fine map the region in AD families in order to define regions of high recombination as closely as possible and determine the most likely location of the AD locus. The families will also be examined for methylation abnormalities and chromosomal duplications, insertion, deletions, or inversions. The second set of aims revolves around the isolation and analysis of AD candidate genes for direct identification of causative mutations.

描述：这项建议的目的是分离基因参与 孤独症（AD）。 基因搜寻将集中在染色体15 q11-q13上 因为最近的证据，其中一些来自调查人员的实验室， 这个区域与AD有关 第一个目标是发展 从基因组重叠群标记，以遗传精细定位AD区域 家庭，以确定区域的高度重组密切， 可能的，并确定AD基因座的最可能的位置。 的 还将检查家庭的甲基化异常和染色体异常。 重复、插入、缺失或倒置。 第二组目标 围绕AD候选基因的分离和分析， 鉴定致病突变。