东篱科研大数据发现系统（DRDS）

位置：成果数据库 > 期刊 > 期刊详情页

中国人非综合征型学语前聋患者Taperin基因突变筛查研究

ISSN号：1001-1781
期刊名称：临床耳鼻咽喉头颈外科杂志
时间：2014
页码：672-675
分类：R764.43[医药卫生—耳鼻咽喉科;医药卫生—临床医学]
作者机构：[1]中南大学湘雅二医院耳鼻咽喉科长沙,410011
相关基金：国家自然科学基金（No：81100716）;湖南省十一五期间人工耳蜗植入援助计划资助研究项目;国家重大科学研究计划资助（No：2012CB967900,No：2012CB967904）
相关项目：听觉相关蛋白Taperin的致聋分子机制和基因调控研究

关键词：基因, 静纤毛, 突变, 耳聋, 遗传性, gene , stereocilium , mutation , hearing loss, hereditary

中文摘要：

目的：应用耳聋基因芯片联合DNA测序法对134例非综合征型聋患者进行静纤毛表达的Taperin基因的突变检测，分析该基因在中国人遗传性聋患者中的突变率及类型特点。方法：采集134例非综合征型聋患者和100例听力正常者的外周血，提取基因组DNA。用遗传性耳聋基因芯片排除常见的4个致聋基因突变患者，对未携带或仅带有单个杂合GJB2或SLC26A4突变的患者应用PCR—DNA测序法对Taperin基因序列进行测定，分析有无突变。结果：在134例非综合征型聋患者组中，基因芯片方法排除出19个患者携带常见致聋基因突变；剩下115例患者应用DNA测序法对Taperin基因进一步检测，结果在2例患者中发现A187S杂合突变。经同源性分析，A187S发生在保守的氨基酸残基。在家族成员中也检出携带了上述突变的杂合子。此外，在患者和对照组中发现2种多态157C〉T和318C〉T。结论：在中国人非综合征聋患者中发现Taperin基因1种新突变A187S，可能与耳聋有关。还在中国人中发现Tapetin基因的2种多态157C〉T和318C〉T。在中国人非综合征型耳聋患者中Taperin基因的突变携带率约为1．74％。

英文摘要：

Objective： To screen and identify the frequency ed gene TaperJn of Chinese prelJngual nonsyndromJc hearing and characteristic of mutation in stereocilium-relatimpairment with DNA microarray combined with PCR. Method：One hundred and thirty-four patients of prelingual nonsyndromic deafness and one hundred health individuals in China were investigated in this study. Genomic DNA was extracted from the patients and was subjected to DNA microarray to screen mutations in 4 most common genes. The samples that carried none of the common mutant alleles were subjected to PCR and sequenced to detect mutations in Taperin gene. Result： Ninteen out of one hundred and thirty-four patients of prelingual nonsyndromic deafness were detected carring common deafness gene with DNA microarray. Taperin gene were detected in one hundred and fifteen patients with PCR. A187S was detected in Taperin as hetrozygous state in 2 patients and their unaffected members of their family. It occurred at the evolutionary conservation of the amino acids of taperin according to alignment analysis. Two polymorphism, 157C〉T and 318C〉T, were found in the patients and the control group. Conclusion： A novel Taperin mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss,which may be relevant to hearing loss. Two polymorphism, 157C〉T and 318C〉T, were found in Chinese in our research. The carrier frequency for Taperin mutation is about 1.74% of prelingual nonsyndromic deafness in Chinese patients.

同期刊论文项目