中国人非综合征型学语前聋患者Taperin基因突变筛查研究

发布时间：2018-05-15 10:22

本文选题：基因 + 静纤毛　；参考：《临床耳鼻咽喉头颈外科杂志》2014年10期

【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157CT和318CT。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157CT和318CT。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%。
[Abstract]:Objective: to detect the mutation of Taperin gene expressed in static cilium of 134 patients with non-syndromic deafness by using deafness gene chip and DNA sequencing, and to analyze the mutation rate and type characteristics of the gene in Chinese hereditary deafness patients. Methods: peripheral blood samples from 134 patients with non-syndromic deafness and 100 normal hearing subjects were collected and genomic DNA were extracted. Four common deafness gene mutations were excluded by genetic deafness gene chip. PCR-DNA sequencing was used to detect the Taperin gene sequence in patients without or only with a single heterozygous GJB2 or SLC26A4 mutation. Results: in 134 patients with non-syndromic deafness, 19 patients were excluded from carrying common deafness gene mutations by gene chip method, and the remaining 115 patients were further detected for Taperin gene by DNA sequencing. Results A 187s heterozygosity mutation was found in 2 patients. By homology analysis, A187s occurred in conserved amino acid residues. Heterozygotes with these mutations were also found in the family members. In addition, two polymorphic 157CT and 318 CTs were found in patients and controls. Conclusion: a new mutation of A187Sin Taperin gene may be associated with deafness in Chinese patients with non-syndromic deafness. Two polymorphic 157CT and 318CTs of Tapetin gene were also found in Chinese. The mutation rate of Taperin gene in Chinese patients with non-syndromic deafness was about 1. 74.
【作者单位】：中南大学湘雅二医院耳鼻咽喉科;
【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)
【分类号】：R764.43

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