两个有血缘关系的常染色体显性非综合性耳聋家系基因突变分析  

c. 359T 〉 C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor

作　　者：杨嵘[1] 李浒 詹成雄[1] 冒海燕 詹泰岚[1] 朱正烽 刘平[1] 袁文林 柯铁[1] 王擎[1] 刘木根[1] 唐朝晖[1] 

机构地区：[1]华中科技大学生命科学与技术学院人类基因组研究中心,武汉430074 [2]盐城市第四人民医院

出　　处：《中华医学遗传学杂志》2010年第3期259-262,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30700455,30871386,30771199）

摘　　要：目的 对两个有血缘关系的常染色体显性非综合性耳聋家系进行基因定位及突变分析,确定其致病基因.方法 通过家系调查和临床检查,鉴定了两个有血缘关系的常染色体显性非综合性耳聋大家系.并对已知位点及基因进行连锁分析,对致病基因在染色体上进行定位.PCR扩增候选基因MYH14基因的所有外显子和外显子-内含子交界区,直接测序法进行突变检测.结果 将这两个家系的致病基因定位于DFNA4位点,最大连锁值为4.94.具有统计学意义.突变检测发现MYH14基因的杂合突变c.359T〉C（p.S120L）,DNA直接测序确证两家系的所有患者均携带该突变,而家系中正常人则均不携带该突变.结论 第1次在中国非综合性耳聋家系中发现MYH14基因的突变,表明MYH14基因突变也是导致中国人非综合性耳聋的原因.Objective To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment （NSHI）. Methods Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 （MYH14） gene were amplified by PCR and sequenced. Results The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13. 33. A heterozygous transition of c. 359T〉C （p. S120L） in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families. Conclusion It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.

关 键 词：常染色体显性非综合性耳聋 MYH14基因 连锁分析 突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]