小鼠10号染色体上耳聋突变hml的精细定位
Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10.
作者信息
Zheng Qing Yin, Harris Belinda S, Ward-Bailey Patricia F, Yu Heping, Bronson Roderick T, Davisson Muriel T, Johnson Kenneth R
机构信息
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
出版信息
Acad J Xian Jiaotong Univ. 2004 Jun;25(3):209-212.
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 were used to map a novel mutation named hypoplasia of the membranous labyrinth (hml), which causes hearing loss in mutant mice. RESULTS: 1. hml was mapped on mouse Chr 10 (~43 cM from the centromere) suggests that the homologous human gene is on 12q22-q24, which was defined on the basis of known mouse-human homologies (OMIM, 2004). 2. This study has generated 25 polymorphic microsatellite markers, placed 3 known human genes in the correct order in a high-resolution mouse map and narrowed the hml candidate gene region to a 500kb area.
目的
定位一个小鼠耳聋基因，鉴定潜在突变，并开发一种人类耳聋的小鼠模型。方法：利用遗传连锁杂交和基因组扫描来定位一个名为膜迷路发育不全（hml）的新突变，该突变导致突变小鼠听力丧失。结果：1. hml被定位在小鼠10号染色体上（距着丝粒约43厘摩），提示同源人类基因位于12q22 - q24，这是根据已知的小鼠 - 人类同源性确定的（OMIM，2004）。2. 本研究产生了25个多态性微卫星标记，在高分辨率小鼠图谱中以正确顺序定位了3个已知人类基因，并将hml候选基因区域缩小到500kb范围。
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