小鼠10号染色体上致聋突变基因hml的精确定位

摘要

Objective To map a mouse deafness gene, identify the underlying mutation and develop a mouse model for human deafness. Methods Genetic linkage cross and genome scan wete used to map a novel mutation naned hypoplasia of the membranous labyrinth(hml),which causes hearing loss in mutant mice. Results ① hml was mappde on mouse Chr 10(～43 cM from the centromere),suggesting that the homologous human gene is on 12q22-q24,which was defined on the basis of known mouse-human homologies(OMIM,2004).②This study has generated 25 polymorphic microsatellite markers,placed 3 known human genes in the correct order in a high-resolu-tion mouse map and narrowed the hml candidate gene region to a 500 kb area.%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43 cM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12q22-q24; ②获得了25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500 kb的区域内.