PIROUETTE: A DEAFNESS GENE

描述（改编自研究者摘要）：目的 这项建议是分离和表征负责 常染色体隐性耳聋小鼠pirouette突变。 初步 这项工作已经将该基因定位于小鼠5号染色体的5 cM区域， 同线到4p 14-q12。 在这里，Kohrman博士建议完善 pirouette基因座，评估候选基因，构建 非重组区域，并通过外显子捕获鉴定该区域内的基因 cDNA选择。 一旦一个可能的基因被识别出来， 在对照和突变小鼠中比较结构和表达，以及 通过核糖核酸酶保护，RT-PCR， 和原位杂交。 最后，人类同源基因将被克隆， 测序和染色体作图，以生成用于 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.