DEAFNESS GENE

说明(改编自调查员摘要)：目标 这项提议是为了分离和表征与 常染色体隐性遗传性耳聋小鼠旋转突变体。初步 研究人员已将该基因定位于小鼠5号染色体的5厘米区域，即 同音为4p14-q12。在这里，科尔曼博士建议完善 旋转座位，评估候选基因，构建一个重叠群 非重组区，并通过外显子捕获识别区域内的基因 和c DNA的选择。一旦确定了一个可能的基因，它就会 比较了对照和突变小鼠的结构和表达，以及 基因的表达将通过核糖核酸酶保护、RT-PCR、 和原位杂交。最后，人类的同源基因将被克隆， 测序，并进行染色体定位，以产生试剂 人类患者的突变检测。

DESCRIPTION (Adapted from the Investigator's Abstract): The objective of this proposal is to isolate and characterize the gene responsible for autosomal recessive deafness in the mouse pirouette mutant. Preliminary work has localized the gene to a 5 cM region of mouse chromosome 5 that is syntenic to 4p14-q12. Here Dr. Kohrman proposes to refine the map of the pirouette locus, evaluate candidate genes, construct a contig of the nonrecombinant region, and identify genes within the region by exon trapping and cDNA selection. Once a likely gene has been identified, it will be compared in structure and expression in control and mutant mice, and expression of the gene will be examined by ribonuclease protection, RT-PCR, and in situ hybridization. Finally, the human homolog will be cloned, sequenced, and chromosomally mapped in order to generate reagents for mutation detection in human patients.