本文選題：基因 + 靜纖毛�。� 參考：《臨床耳鼻咽喉頭頸外科雜志》2014年10期

【摘要】：目的:應(yīng)用耳聾基因芯片聯(lián)合DNA測序法對134例非綜合征型聾患者進(jìn)行靜纖毛表達(dá)的Taperin基因的突變檢測,分析該基因在中國人遺傳性聾患者中的突變率及類型特點。方法:采集134例非綜合征型聾患者和100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排除常見的4個致聾基因突變患者,對未攜帶或僅帶有單個雜合GJB2或SLC26A4突變的患者應(yīng)用PCR-DNA測序法對Taperin基因序列進(jìn)行測定,分析有無突變。結(jié)果:在134例非綜合征型聾患者組中,基因芯片方法排除出19個患者攜帶常見致聾基因突變;剩下115例患者應(yīng)用DNA測序法對Taperin基因進(jìn)一步檢測,結(jié)果在2例患者中發(fā)現(xiàn)A187S雜合突變。經(jīng)同源性分析,A187S發(fā)生在保守的氨基酸殘基。在家族成員中也檢出攜帶了上述突變的雜合子。此外,在患者和對照組中發(fā)現(xiàn)2種多態(tài)157CT和318CT。結(jié)論:在中國人非綜合征聾患者中發(fā)現(xiàn)Taperin基因1種新突變A187S,可能與耳聾有關(guān)。還在中國人中發(fā)現(xiàn)Tapetin基因的2種多態(tài)157CT和318CT。在中國人非綜合征型耳聾患者中Taperin基因的突變攜帶率約為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.
【作者單位】： 中南大學(xué)湘雅二醫(yī)院耳鼻咽喉科;
【基金】：國家自然科學(xué)基金(No:81100716) 湖南省十一五期間人工耳蝸植入援助計劃資助研究項目 國家重大科學(xué)研究計劃資助(No:2012CB967900,No:2012CB967904)
【分類號】：R764.43

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