本文關(guān)鍵詞： 毛細(xì)胞 靜纖毛 基因 突變 非綜合征性耳聾　出處：《中南大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的 為了研究耳蝸毛細(xì)胞靜纖毛相關(guān)的Taperin (TPRN)基因在中國人遺傳性聾患者中的基因型的特點(diǎn),我們應(yīng)用耳聾基因芯片聯(lián)合DNA測(cè)序法對(duì)127例非綜合征型聾患者及50例聽力正常者進(jìn)行了TPRN基因的突變檢測(cè)和序列分析。 方法 采集127例非綜合征型聾患者和50例聽力正常者的外周血,提取基因組DNA,用遺傳性耳聾基因芯片對(duì)國人中4個(gè)常見致聾基因9個(gè)位點(diǎn)進(jìn)行檢測(cè)。排除常見的致聾基因突變后,再應(yīng)用PCR-DNA測(cè)序法對(duì)患者和正常人的TPRN基因4個(gè)外顯子基因編碼區(qū)序列進(jìn)行檢測(cè)。測(cè)序結(jié)果采用DNAstar軟件分析判斷有無突變。 結(jié)果 本研究在127例非綜合征型聾患者組中,基因芯片方法篩查出27個(gè)患者中發(fā)生常見的基因突變,50例聽力正常者未發(fā)現(xiàn)突變。剩下100例患者及50例聽力正常者應(yīng)用DNA測(cè)序法對(duì)Taperin基因進(jìn)一步檢測(cè),結(jié)果在一名患者中發(fā)現(xiàn)該基因P230H,S241T,S269N三種突變。同源性分析分析后兩種突變均發(fā)生在保守的氨基酸序列。 結(jié)論 本實(shí)驗(yàn)中,Taperin基因在中國非綜合征型耳聾患者中的突變檢出率約為0.78%,正常人中未發(fā)現(xiàn)該基因的突變。Taperin基因包含4個(gè)外顯子,適合DNA測(cè)序法進(jìn)行基因診斷。本實(shí)驗(yàn)中發(fā)現(xiàn)的突變,很可能是導(dǎo)致患者耳聾的因素,可進(jìn)一步追查其家系以確定其致聾性。Taperin基因突變導(dǎo)致的耳聾目前無特異性的臨床診斷方法,其突變致病的機(jī)理尚待進(jìn)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 .

【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R764

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本文編號(hào)：1527834