定位于5q31-5q32的DFNA52的20个候选基因的突变筛查  

Mutation screening of 20 candidate genes located in chromosome 5q31-5q32 for DFNA52 locus

作　　者：卜枫啸[1] 彭聿[1] 王树辉[2] 潘琼[1] 胡正茂[1] 龚惠勇[1] 张静[1] 邬玲仟[1] 梁德生[1] 潘乾[1] 冯永[3] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学湘雅医院医学遗传学国家重点实验室,长沙410078 [2]中南大学湘雅二医院耳鼻咽喉科,长沙410011 [3]中南大学湘雅医院耳鼻咽喉科,长沙410078

出　　处：《遗传》2009年第1期43-49,共7页Hereditas（Beijing)

基　　金：国家高技术研究发展计划项目(863计划)(编号:2007AA02Z445);国家重点基础研究发展规划(973计划)项目(编号:2004CB518601)资助

摘　　要：为了克隆定位于5号染色体微卫星标记D5S2056和D5S638之间约8.8 cM的区间内的非综合征性常染色体显性遗传性耳聋DFNA52(OMIM:607683)的致病基因,文章根据基因在耳蜗组织的表达情况,筛选出20个候选基因,设计合成了扩增20个基因外显子及外显子与内含子交界的引物,用DNA直接测序法进行序列变异分析。结果显示,在基因外显子及侧翼区共发现了45个单核苷酸多态,其中42个变异在多态数据库已报道,其余3个为新发现的单核苷酸多态,序列变异与疾病表型无共分离现象,排除了这些基因外显子突变导致遗传性耳聋的可能性。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.

关 键 词：非综合症遗传性耳聋 听力下降 DFNA52 候选基因 

分 类 号：R764[医药卫生—耳鼻咽喉科]