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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.

PMID:21179397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3004367/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/92cde631d036/nihms187027f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/4ab8ee99c377/nihms187027f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/f6d4648ef539/nihms187027f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/92cde631d036/nihms187027f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/4ab8ee99c377/nihms187027f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/f6d4648ef539/nihms187027f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0eb9/3004367/92cde631d036/nihms187027f3.jpg

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引用本文的文献

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Brain Res. 2006 May 26;1091(1):113-21. doi: 10.1016/j.brainres.2006.02.069. Epub 2006 Apr 5.

本文引用的文献

1
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.与先天性耳聋相关的12q22 - q24缺失的分子特征:DFNA25基因座的确认与细化
Am J Med Genet A. 2003 Mar 1;117A(2):122-6. doi: 10.1002/ajmg.a.10155.
2
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses.通过听性脑干反应阈值分析对80个近交系小鼠进行听力评估。
Hear Res. 1999 Apr;130(1-2):94-107. doi: 10.1016/s0378-5955(99)00003-9.
3
The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome.
最初的伴有并指畸形的摇尾突变(sy)是一种相邻基因缺失综合征。
Mamm Genome. 1998 Nov;9(11):889-92. doi: 10.1007/s003359900889.
4
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.摩卡小鼠中AP-3δ的突变将内体运输与血小板、黑素小体和突触小泡中的储存缺陷联系起来。
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Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10.小鼠10号染色体上耳聋突变Ames华尔兹的精细遗传图谱和比较图谱。
Genomics. 1998 Jun 1;50(2):260-6. doi: 10.1006/geno.1998.5298.
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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
Nat Genet. 1997 Nov;17(3):268-9. doi: 10.1038/ng1197-268.
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The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3.
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8
A type VII myosin encoded by the mouse deafness gene shaker-1.由小鼠耳聋基因shaker-1编码的VII型肌球蛋白。
Nature. 1995 Mar 2;374(6517):62-4. doi: 10.1038/374062a0.
9
Defective myosin VIIA gene responsible for Usher syndrome type 1B.导致1B型Usher综合征的肌球蛋白VIIA基因缺陷。
Nature. 1995 Mar 2;374(6517):60-1. doi: 10.1038/374060a0.
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Genetic epidemiology of hearing impairment.听力障碍的遗传流行病学
Ann N Y Acad Sci. 1991;630:16-31. doi: 10.1111/j.1749-6632.1991.tb19572.x.