Johnson K R, Erway L C, Cook S A, Willott J F, Zheng Q Y
The Jackson Laboratory, Bar Harbor, ME 04609-1500, USA.
Hear Res. 1997 Dec;114(1-2):83-92. doi: 10.1016/s0378-5955(97)00155-x.
A major gene responsible for age-related hearing loss (AHL) in C57BL/6J mice was mapped by analyses of a (C57BL/6J x CAST/Ei) x C57BL/6J backcross. AHL, as measured by elevated auditory-evoked brainstem response (ABR) thresholds, segregated among backcross mice as expected for a recessive, primarily single-gene trait. Both qualitative and quantitative linkage analyses gave the same genetic map position for the AHL gene (Ahl on chromosome 10, near D10Mit5. Marker assisted selection was then used to produce congenic lines of C57BL/6J that contain different CAST-derived segments of chromosome 10. ABR test results and cochlear histopathology of aged progenitors of these congenic lines are presented. Ahl is the first gene causing late-onset, non-syndromic hearing loss that has been reported in the mouse.
通过对(C57BL/6J×CAST/Ei)×C57BL/6J回交群体的分析,定位了C57BL/6J小鼠中一个与年龄相关性听力损失(AHL)相关的主要基因。以听觉脑干反应(ABR)阈值升高来衡量的AHL,在回交小鼠中呈隐性、主要为单基因性状分离,符合预期。定性和定量连锁分析均给出了AHL基因相同的遗传图谱位置(Ahl位于10号染色体,靠近D10Mit5)。随后利用标记辅助选择培育出含有10号染色体不同CAST衍生片段的C57BL/6J同源近交系。本文展示了这些同源近交系老龄后代的ABR测试结果和耳蜗组织病理学情况。Ahl是小鼠中报道的首个导致迟发性、非综合征性听力损失的基因。