Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss |
| |
| Authors: | Noben-Trauth Konrad Zheng Qing Yin Johnson Kenneth R |
| |
| Institution: | Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA. nobentk@nidcd.nih.gov |
| |
| Abstract: | 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
