MAPPING AND GENE EXPRESSION IN AUTISM REGION ON CH 15

描述：这项提议的目的是分离涉及到 自闭症(AD)。基因搜寻将集中在染色体15q11-q13上。 因为最近的证据，其中一些来自调查员的实验室， 这一区域与AD有关。第一套目标是发展 从基因组重叠群到遗传精细定位AD区域的标记 家族来定义高重组率的区域 并确定AD基因座最可能的位置。这个 这些家庭还将接受甲基化异常和染色体检查。 复制、插入、删除或颠倒。第二套目标 围绕着AD候选基因的分离和分析 致病突变的鉴定。

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.