论文部分内容阅读
目的 定位小鼠致聋基因 ,识别决定其性状的有关突变 ,为人类耳聋基因研究提供动物模型。方法 利用全基因组扫描来定位名为hml可致小鼠听力丧失突变基因。结果 ①hml基因定位在小鼠 10号染色体上 ,距中心粒约4 3cM处。根据已知的鼠 人同源同线性特点 ,提示人的同源基因位于 12 q2 2 -q2 4 ;②获得了 2 5个多态性微卫星标记 ,通过高分辨的小鼠图谱将 3个已知人类基因进行了正确排列 ,并将hml侯选基因限定在一个 5 0 0kb的区域内。
Objective To locate the gene of deafness in mice and identify the related mutations that determine their traits, and to provide an animal model for the study of human deafness genes. Methods Genome-wide scanning was used to locate a gene called hml that causes hearing loss in mice. Results ① hml gene was mapped on mouse chromosome 10, about 4 3cM away from the centriole. Based on the homology and homology of known mouse homologues, homologous genes of human were suggested to be located at 12 q2 2 -q2 4; ② 25 polymorphic microsatellite markers were obtained, and 3 Known human genes were correctly arranged, and the hml candidate gene limited to a 500kb region.