Open AccessMutation screening of 20 candidate genes located in chromosome 5q31-5q32 for DFNA52 locus
Author(s) -
Fengxiao Bu,
Yu-Cong Peng,
Wang Sh,
Quan Pan,
Hu Zm,
Gong Hy,
J Zhang,
Wu Lq,
Liang Ds,
Yong Feng,
Kun Xia,
Xia Jh
Publication year - 2009
Publication title -
yichuan
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
H-Index - 16
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2009.00043
Subject(s) - candidate gene , genetics , locus (genetics) , biology , gene , positional cloning , coding region , genetic linkage , chromosome
Previously, we mapped the DFNA52 (OMIM: 607683) locus to an 8.8 cM interval between STR D5S2056 and D5S638 on human chromosome 5q31.1-q32 in a large consanguineous Chinese family with congenital sensorineural hearing loss. Positional candidate cloning approach was applied to analyze the candidate genes in this region. We analyzed 20 genes according to cochlear expression pattern, which were also located in the DFNA52 interval as candidate genes. Sequencing of the coding and splice site regions of these genes did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely virulence gene for DFNA52.