共 15 条
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
被引:370
作者:

Noben-Trauth, K
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机构: Natl Inst Deafness & Other Commun Disorders, Neurogenet Sect, NIH, Rockville, MD 20850 USA

Zheng, QY
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机构: Natl Inst Deafness & Other Commun Disorders, Neurogenet Sect, NIH, Rockville, MD 20850 USA

Johnson, KR
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机构: Natl Inst Deafness & Other Commun Disorders, Neurogenet Sect, NIH, Rockville, MD 20850 USA
机构:
[1] Natl Inst Deafness & Other Commun Disorders, Neurogenet Sect, NIH, Rockville, MD 20850 USA
[2] Jackson Lab, Bar Harbor, ME 04609 USA
关键词:
D O I:
10.1038/ng1226
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice.
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页码:21 / 23
页数:3
相关论文
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