非综合征耳聋患者线粒体DNA 12S rRNA及tRNASer(UCN)基因序列分析
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江苏省“科教兴卫工程”医学重点人才基金(RC2007064)


Sequence analysis of mitochondrial 12S rRNA and tRNASer (UCN) genes in patients with non-syndromic hearing loss
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    摘要:

    目的:探讨线粒体DNA(mitochondrial DNA,mtDNA)12S rRNA基因及tRNASer(UCN)基因突变与非综合征耳聋的相关性,以及常见致聋突变携带频率-方法:收集非综合征耳聋患者135例和听力正常对照人群126例的外周血样本,常规方法提取基因组DNA,PCR扩增mtDNA 12S rRNA基因及tRNASer(UCN)基因,扩增产物经直接测序进行耳聋相关突变的鉴定-结果:135例非综合征耳聋患者中共检测到11种mtDNA 12S rRNA碱基变异,其中4种已知致病突变的携带率分别为:A827G,4.4%;T961C,1.5%;T1095C,0.7%;A1555G,1.5%-两组人群均未检测到12S rRNA C1494T突变以及tRNASer(UCN)基因任何形式的致聋突变-结论:mtDNA 12S rRNA是南京地区汉族非综合征耳聋人群的突变热点基因,其常见致聋突变总携带率约为8.1%-

    Abstract:

    Objective: To determine the prevalence and characteristics of mitochondrial DNA (mtDNA) 12S rRNA gene and tRNASer (UCN) gene mutations in Chinese subjects with non-syndromic hearing impairment. Methods: The peripheral blood samples were obtained from 135 patients with non-syndromic hearing loss and 126 normal hearing controls. Genomic DNA was isolated from the peripheral leukocytes of all participants using the Puregene DNA Isolation Kits. The subject’s DNA fragments spanning the entire mitochondrial 12S rRNA gene and tRNASer(UCN) gene were PCR amplified. Each fragment was purified and subsequently analyzed by direct sequencing to identify deafness-associated mutations. Results: There were totally eleven 12S rRNA sequence variants detected in 135 hearing-impaired subjects. Of those,4 variants are known deafness-associated mutations with variable frequencies of 4.4% in A827G,1.5% in T961C,0.7% in T1095C and 1.5% in A1555G. Other variants,such as T1005C,C1048T,T1119C,G709A,C752T and A1382C,seem to be polymorphisms rather than causes of disease. On the other hand,we did not find C1494T mutation in the 12S rRNA gene and any of the known deafness-associated mutations in tRNASer (UCN) gene in all individuals. Conclusion: The 12S rRNA gene may be a hot spot for mitochondrial mutations causing non-syndromic hearing loss in the Han nationality population in Nanjing,Jiangsu province,with a total carrier frequency of 8.1% for deafness-related mutations.

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戴大春,鲁雅洁,陈智斌,魏钦俊,曹 新,邢光前,卜行宽.非综合征耳聋患者线粒体DNA 12S rRNA及tRNASer(UCN)基因序列分析[J].南京医科大学学报(自然科学版),2012,(1):67-71

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  • 收稿日期:2011-08-03
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