本文選題：耳聾　切入點：基因突變　出處：《臨床耳鼻咽喉頭頸外科雜志》2014年10期 　論文類型：期刊論文

【摘要】：目的:通過檢測湖北地區(qū)極重度感音神經性聾患兒常見耳聾基因突變情況,分析該人群的分子病因學特點,為臨床耳聾防治和遺傳咨詢提供參考。方法:收集306例湖北地區(qū)極重度感音神經性聾患兒,抽取外周血,提取DNA,應用遺傳性耳聾基因芯片檢測GJB2、GJB3、SLC26A4和線粒體12SrRNA 4個基因的9個突變熱點。對所有攜帶SLC26A4基因突變患者進行顳骨CT掃描。結果:306名患兒中,132例(43.14%)檢出攜帶不同基因突變,其中有2例攜帶雙基因突變。GJB2基因突變檢出率為29.41%(90/306),SLC26A4基因突變檢出率為13.72%(42/306),線粒體12SrRNA基因突變檢出率為0.65%(2/306)。本組患者未檢出GJB3基因突變。36例攜帶SLC26A4基因突變者顳骨CT掃描顯示前庭水管擴大。結論:GJB2基因和SLC26A4基因是本組患兒最主要的致聾基因,其中235delC突變?yōu)樽畛Ｒ姷耐蛔兾稽c,其次為IVS7-2AG突變。篩查SLC26A4基因常見突變有助于大前庭水管綜合征的診斷。
[Abstract]:Objective: to analyze the molecular etiological characteristics of deafness gene mutation in children with very severe sensorineural hearing loss in Hubei province. Methods: 306 children with extremely severe sensorineural hearing loss in Hubei were collected and peripheral blood samples were collected. DNA was extracted and 9 hot spots of GJB2GJB3OSLC26A4 and mitochondrial 12s rRNA were detected by genetic deafness gene chip. Temporal bone CT scanning was performed on all patients with SLC26A4 gene mutation. Results different gene mutations were detected in 132 of 306 children with SLC26A4 gene mutation. The detection rate of SLC26A4 gene mutation was 29.41%, and that of SLC26A4 gene was 13.72%, and that of mitochondrial 12s rRNA gene was 0.65% 2 / 306%. No mutation of GJB3 gene was detected in this group. 36 cases with SLC26A4 gene mutation were examined by CT scan of temporal bone. The vestibular aqueduct was enlarged. Conclusion the gene of GJB2 and SLC26A4 are the most important deafening genes in this group. Among them, 235delC mutation was the most common mutation site, followed by IVS7-2AG mutation. Screening for common mutations of SLC26A4 gene was helpful for the diagnosis of large vestibular aqueduct syndrome.
【作者單位】： 華中科技大學同濟醫(yī)學院附屬協(xié)和醫(yī)院耳鼻咽喉科;
【基金】：國家重點基礎研究發(fā)展計劃(973計劃,No:2011CB504504) 衛(wèi)生部行業(yè)基金《耳聾出生缺陷預防和干預規(guī)范化及推廣應用》(No:201202005) 衛(wèi)生部行業(yè)專項《國產人工耳蝸優(yōu)化及臨床技術研究》(No:201202001)
【分類號】：R764.43

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