本文選題：聾　切入點(diǎn)：人工耳蝸植入　出處：《臨床耳鼻咽喉頭頸外科雜志》2012年19期

【摘要】：目的:研究云南省雙親聽力表型正常的人工耳蝸植入(CI)兒童中GJB2基因、SLC26A4基因和線粒體12SrRNA基因的突變方式和特征,為臨床分子診斷和流行病學(xué)研究以及分析突變類型與術(shù)后聽力康復(fù)的關(guān)系提供資料。方法:提取46例患兒及其父母64人的基因組DNA,擴(kuò)增GJB2、SLC26A4和線粒體12SrRNA基因,直接測序分析突變。結(jié)果:25例(54.3%)患兒中發(fā)現(xiàn)致聾突變,其中19例(41.3%)GJB2基因突變率最高。主要類型有:235delC(6例,13.0%)和109GA(11例,24.0%);其次SLC26A4基因?yàn)?6例,13.0%),以IVS7-2AG突變率最高(3例,6.5%);未檢出線粒體12SrRNA基因病理性突變。發(fā)現(xiàn)7例(15.2%)患兒耳聾與腦白質(zhì)病、核黃疸、缺氧缺血性腦損傷等非遺傳因素相關(guān)。發(fā)現(xiàn)23位先證者父母攜帶病理性突變(36.0%)。漢族與少數(shù)民族間檢出率差異無統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論:基因突變?yōu)樵颇螩I兒童最主要的致聾病因,GJB2基因235delC及109GA頻率均較高;SLC26A4為僅次于GJB2的致聾相關(guān)基因,以IVS7-2AG頻率最高,其次是2168AG;線粒體12SrRNA突變可能并非主要致聾病因。另外,非遺傳因素也是該人群重要的致聾原因。對父母聽力表型正常的CI兒童行基因檢測,可了解特定患者的病因和遺傳信息,有助于耳聾的診斷和干預(yù),并為臨床針對不同突變類型的CI兒童進(jìn)行療效分析提供數(shù)據(jù)。
[Abstract]:Objective: to study the mutation patterns and characteristics of GJB2 gene SLC26A4 and mitochondrial 12SrRNA gene in children with normal hearing phenotype of cochlear implants in Yunnan Province. Methods: the genomic DNAs of 46 children and 64 parents were extracted and amplified by amplification of GJB2OSLC26A4 and mitochondrial 12SrRNA gene. The mutation was analyzed by direct sequencing. Results Deaf-induced mutation was found in 25 cases of children with deafness. The mutation rate of GJB2 gene was the highest in 19 cases. The main types were: 235delCtrol (6 cases 13.0) and 109GA(11 (24.0%). The second group was SLC26A4 base because of 6 cases with 13.0D, with the highest mutation rate of IVS7-2AG in 3 cases (6.5%). The pathological mutation of mitochondrial 12SrRNA gene was not detected. 7 cases were found to have deafness and leukoencephalopathy, and 7 cases were found to have leukoencephalopathy. Nuclear jaundice, Non-genetic factors, such as hypoxic-ischemic brain damage, were related. It was found that the parents of 23 proband patients had a pathological mutation of 36.0%. There was no significant difference in detection rate between Han and ethnic minorities. Conclusion: gene mutation is the most important gene mutation in CI children in Yunnan Province. The frequency of 235delC and 109GA of GJB2 gene was higher than that of SLC26A4 gene, which was second only to that of GJB2. The frequency of IVS7-2AG is the highest, followed by 2168 AG.The mitochondrial 12SrRNA mutation may not be the main cause of deafness. In addition, non-genetic factors are also the important cause of deafness in this population. It is helpful for the diagnosis and intervention of deafness and provides data for clinical analysis of the curative effect of CI children with different mutation types.
【作者單位】： 昆明醫(yī)學(xué)院第一附屬醫(yī)院耳鼻咽喉科;云南省第二人民醫(yī)院耳鼻咽喉科;昆明市兒童醫(yī)院新生兒科;昆明市官渡區(qū)醫(yī)院兒科;晉寧縣醫(yī)院耳鼻咽喉科;解放軍總醫(yī)院耳鼻咽喉-頭頸外科;
【分類號】：R764.43

【參考文獻(xiàn)】

相關(guān)期刊論文 前7條

1 劉博;董瑞娟;陳雪清;龔樹生;李永新;鄭軍;韓德民;;大前庭水管綜合征人工耳蝸植入者的聽力特點(diǎn)與效果分析[J];首都醫(yī)科大學(xué)學(xué)報(bào);2009年06期

2 郭玉芬;劉曉雯;關(guān)靜;徐百成;韓明鯤;趙翠;趙亞麗;王大勇;蘭蘭;鮑曉林;王秋菊;;西北地區(qū)非綜合征型耳聾患者GJB2、SLC26A4基因突變的分子流行病學(xué)研究[J];聽力學(xué)及言語疾病雜志;2008年04期

3 傅四清,陳觀明;遺傳性耳聾的分子遺傳學(xué)研究進(jìn)展[J];生命的化學(xué);2000年04期

4 鄭秀瑾;李海珍;張誼;張文露;;2—5歲小兒人工耳蝸植入術(shù)后的言語康復(fù)[J];中國康復(fù)醫(yī)學(xué)雜志;2007年01期

5 李琦;戴樸;黃德亮;袁永一;朱慶文;韓冰;劉新;于飛;康東洋;張昕;薛丹丹;金政策;;SLC26A4基因IVS7-2A>G突變在中國不同地區(qū)和民族重度感音聾患者中分布頻率的觀察[J];中華耳鼻咽喉頭頸外科雜志;2007年12期

6 戴樸;劉新;于飛;朱慶文;袁永一;楊淑芝;孫R，

本文編號：1675637