MOLECULAR GENETICS OF RETT SYNDROME

描述：(改编自调查人员摘要)这项研究建议绘制 分离雷特综合症的基因，这是一种最常见的中枢神经疾病 常见于女性，使用罕见的家族性病例。申请者将测试 假设Rett综合征(RS)是一种X连锁的显性疾病， 非穿透性女性携带者部分由X失活模式决定。 申请者将扩展已本地化的初步测绘实验 将RS基因定位到Xq28，缩小候选图谱区间。到时候他们就会 作为一种方法，在一些零星病例中筛查Xq28中的缺失 通过杂合性缺失研究对RS基因进行精细定位。详细的物理信息 在Xq28中定义物理重新排列的映射将作为以下内容的基础 从关键标签中测试候选表达序列标签(EST 区域，以及最终的基因和蛋白质特性。

DESCRIPTION: (Adapted from investigator's abstract) This study proposes to map and isolate the gene for Rett syndrome, a central nervous disorder most commonly seen in females, using rare familial cases. The applicant will test the hypothesis that Rett syndrome (RS) is an X-linked dominant condition, with non-penetrant female carriers determined in part by X inactivation patterns. The applicant will extend preliminary mapping experiments that have localized the RS gene to Xq28 and narrow the candidate map interval. They will then screen for deletions within Xq28 in a number of sporadic cases, as an approach to fine map the RS gene by loss-of-heterozygosity studies. Detailed physical mapping to define physical rearrangements in Xq28 will serve as a basis for testing candidate expressed sequence tags (ESTs) from within the critical region and for eventual gene and protein characterization.