小鼠10号染色体上致聋突变基因hml的精确定位(英文)

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。

Fine mapping of a deafness mutaion hml on mouse chromosome 10

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.