中国非综合征型耳聋患者Taperin基因的初步分析

发布时间：2018-02-23 22:17

本文关键词： 毛细胞静纤毛基因突变非综合征性耳聋　出处：《中南大学》2012年硕士论文　论文类型：学位论文

【摘要】：目的为了研究耳蜗毛细胞静纤毛相关的Taperin (TPRN)基因在中国人遗传性聋患者中的基因型的特点,我们应用耳聋基因芯片联合DNA测序法对127例非综合征型聋患者及50例听力正常者进行了TPRN基因的突变检测和序列分析。方法采集127例非综合征型聋患者和50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对国人中4个常见致聋基因9个位点进行检测。排除常见的致聋基因突变后,再应用PCR-DNA测序法对患者和正常人的TPRN基因4个外显子基因编码区序列进行检测。测序结果采用DNAstar软件分析判断有无突变。结果本研究在127例非综合征型聋患者组中,基因芯片方法筛查出27个患者中发生常见的基因突变,50例听力正常者未发现突变。剩下100例患者及50例听力正常者应用DNA测序法对Taperin基因进一步检测,结果在一名患者中发现该基因P230H,S241T,S269N三种突变。同源性分析分析后两种突变均发生在保守的氨基酸序列。结论本实验中,Taperin基因在中国非综合征型耳聋患者中的突变检出率约为0.78%,正常人中未发现该基因的突变。Taperin基因包含4个外显子,适合DNA测序法进行基因诊断。本实验中发现的突变,很可能是导致患者耳聋的因素,可进一步追查其家系以确定其致聋性。Taperin基因突变导致的耳聋目前无特异性的临床诊断方法,其突变致病的机理尚待进一步研究。
[Abstract]:Purpose In order to study the genotype characteristics of Taperin ( TPRNs ) gene related to cochlear hair cells in Chinese patients with hereditary deafness , the mutation detection and sequence analysis were performed on 127 patients with non - syndrotic deafness and 50 patients with normal hearing impairment by using the combined DNA sequencing method of the deaf gene chip . method Genomic DNA was extracted from peripheral blood of 127 patients with non - syndrotic deafness and 50 hearing normal subjects . Nine sites of common deafness genes were detected by hereditary hearing loss gene chip . Four exon gene coding region sequences were detected by PCR - DNA sequencing . The results were analyzed by DNAstar software . Results In this study , in 127 patients with non - syndrotic deafness , the gene chip method was used to screen 27 patients with common gene mutations . There were no mutations in 50 hearing normal subjects . There were 100 patients and 50 hearing normal subjects . The Taperin gene was further detected by DNA sequencing . The results showed that the two mutations of P230H , S241T , S269N were found in one patient . Conclusion In this experiment , the mutation rate of Taperin gene was about 0.78 % in patients with non - syndrotic deafness in China . The mutation of Taperin gene contained 4 exons and was suitable for gene diagnosis by DNA sequencing .

【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R764

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