[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
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.
Bu
Feng-Xiao
FX
National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China. bufengxiao@sklmg.edu.cn
Peng
Yu
Y
Wang
Shu-Hui
SH
Pan
Qiong
Q
Hu
Zheng-Mao
ZM
Gong
Hui-Yong
HY
Zhang
Jing
J
Wu
Ling-Qian
LQ
Liang
De-Sheng
DS
Pan
Qian
Q
Feng
Yong
Y
Xia
Kun
K
Xia
Jia-Hui
JH
D001483:Base Sequence; D002874:Chromosome Mapping / Q000379:methods*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D004268:DNA-Binding Proteins