核基因参与人类线粒体12S rRNA突变相关非综合征耳聋的临床表型  

NUCLEAR GENE INVOLVES IN PHENOTYPE OF NON-SYNDROMIC DEAFNESS ASSOCIATED WITH MITOCHONDRIAL 12S rRNA MUTATION

作　　者：赵苏瑛[1] 张海军[1] 徐春宏[1] 单云峰[1] 单祥年[1] 

机构地区：[1]东南大学医学院遗传中心,南京210009

出　　处：《分子细胞生物学报》2006年第1期39-45,共7页Journal of Molecular Cell Biology

基　　金：国家自然科学基金资助项目(No.6523001260)。~~

摘　　要：人类线粒体DNA 12S rRNA A1555G突变可引起母系遗传性非综合征耳聋,并提高氨基糖甙类药物对该类耳聋的诱导作用。我们在江苏淮阴发现了一个非综合征耳聋大家系,家系个体发病呈典型的母系遗传特征,临床可表现为先天性耳聋、中年进行性耳聋乃至完全正常的表型。对家系个体进行研究后发现A1555G突变是引起该家系耳聋的主要原因。我们用EB病毒转化的方法对该家系部分个体行建系工作后,对家系中17个个体的类淋巴母细胞进行分析,其中包括具有耳聋症状的个体7人(患者组),具有同质性A1555G突变但表型正常的个体6人(携带组),正常婚配对照 5人,与正常婚配对照相比,患者组与携带组在线粒体蛋白合成速率及在葡萄糖或半乳糖培养基中的生长速度出现了不同程度的下降,且突变细胞系中线粒体功能缺陷的严重程度与个体的临床表型相关．这些发现强有力地支持了核基因参与了该疾病临床表型的形成。The human mitochondrial 12S rRNA non-syndromic deafness and aminoglycoside-induced of the biggest non-syndromic deafness family in the gene mutation at position 1555 associated with deafness. Family of Huaiyin in Jiangsu is one world. In this family, deafness is maternally inherited. After establishing immortal lymphoblastoid cell lines of the family by EB virus, we analysed 17 lymphoblastoid cell lines derived,respectively,from symptomatic, asymptomatic and controll members of the family. Compared with control members, symptomatic and asymptomatic members both exhibited significant decreases in the rate of growth as well as in the rates of mitochondrial protein synthesis. But the extent of decreases is different and the severity of mitochondrial defect is related with its clinical phenotype.These results supported that the nuclear factor involves in the phenotypic manifestation of the non-syndromic deafness associated with the A1555G mutation.

关 键 词：非综合征耳聋 表型 12S RRNA 核基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]