title: [Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
abstract: 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.
authors.affiliation: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China. bufengxiao@sklmg.edu.cn
authors.forename: Feng-Xiao
authors.initials: FX
authors.lastname: Bu
authors.forename: Yu
authors.initials: Y
authors.lastname: Peng
authors.forename: Shu-Hui
authors.initials: SH
authors.lastname: Wang
authors.forename: Qiong
authors.initials: Q
authors.lastname: Pan
authors.forename: Zheng-Mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Hui-Yong
authors.initials: HY
authors.lastname: Gong
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Ling-Qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: De-Sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Jia-Hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: 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
chemical_list: D004268:DNA-Binding Proteins