本文選題：壯族　切入點：非綜合征性聾　出處：《中華耳科學雜志》2016年05期 　論文類型：期刊論文

【摘要】：目的分析研究廣西地區(qū)壯族人群135例非綜合征性聾常見致聾基因的突變特點,為防聾治聾工作提供參考。方法采用遺傳性耳聾基因芯片試劑盒對廣西地區(qū)壯族人群135例以及漢族人群44例非綜合征性聾患者基因組DNA的4個常見致聾基因的15個突變位點進行檢測,比較壯、漢族人群常見耳聾基因突變率的差異性。結果 135例壯族人群非綜合征性聾患者常見致聾基因突變率為11.11%(15/135);其中GJB2 235del C純合突變4例(2.96%),單雜合突變3例(2.22%);GJB2 235del C/109 AG復合雜合突變2例(1.48%);SLC26A4 IVS7-2 AG雜合突變1例(0.74%),IVS7-2AG/IVS11+47T㧐C/1548ins C復合雜合突變2例(1.48%);GJB3 538CT單雜合突變1例(0.74%),線粒體12S r RNA 1555 AG異質突變1例(0.74%),GJB2 235 del C雜合突變合并SLC26A4 1226 GA雜合突變1例(0.74%)。44例漢族非綜合征性聾患者常見致聾基因突變率為15.90%(7/44),其中GJB2 235 del C雜合突變3例(6.82%),GJB2 35 del G雜合突變1例(2.27%);SLC26A4 1229CT純合突變2例(4.55%),SLC26A4 IVS7-2 AG雜合突變1例(2.27%)。壯、漢族間耳聾基因突變率比較無統(tǒng)計學意義。結論 GJB2和SLC26A4是廣西地區(qū)壯族人群非綜合征性聾患者最常見的突變基因,GJB2的4個突變位點及SLC26A4的8個突變位點突變率明顯低于全國平均水平,其中SLC26A4 IVS11+47T㧐C、1548ins C和GJB2 109 AG是3個新發(fā)現(xiàn)的突變位點。本地區(qū)壯漢族之間的耳聾基因突變率無明顯的差異性。廣西地區(qū)壯族人群非綜合征性聾患者可能存在罕見的致聾基因或罕見的突變位點,需待進一步研究。
[Abstract]:Objective to study the mutation characteristics of common deafness genes in 135 cases of non-syndromic deafness in Zhuang nationality in Guangxi. Methods the genetic deafness gene chip kit was used to detect and control deafness in 135 Zhuang people in Guangxi and 44 non-syndromic deafness patients in Han nationality. 15 cases of 4 common deafness genes in the genomic DNA of 44 patients with non-syndromic deafness were studied by using genetic deafness gene chip kit. To detect the mutation sites, Relatively strong, Results the mutation rate of common deafness gene was 11.1115 / 135 in 135patients with non-syndromic deafness in Han nationality, among which GJB2 235del C homozygous mutation was found in 4 patients with homozygous mutation of GJB2 235del C, and single heterozygous mutation was found in 3 patients with GJB2235del C109AG. Two cases of heterozygosity mutation 1. 48% SLC26A4 IVS7-2AG heterozygous mutation 1 case with 0.74% IVS7-2AGR / IVS11 47T? GJB3 538CT single heterozygosity 1 case, mitochondrial 12S r RNA 1555 AG heterozygosity 1 case, GJB235 del C heterozygosity with SLC26A4 1226 GA heterozygosity 1 case of non-syndromic deafness in Han nationality: 0.74%. 44 cases of Han nationality with non-syndromic deafness caused by GJB3538CT heterozygosity mutation, 1 case of mitochondrial 12S r RNA 1555 AG heterozygosity mutation 1 case of GJB235 del C heterozygosity mutation combined with SLC26A4 1226 GA heterozygosity mutation 1 case. The mutation rate was 15.900.The heterozygous mutation of GJB2 235 del C was 6.82% in 3 cases. A case of heterozygous mutation of GJB2 35 del G was found in 2 cases of homozygous mutation of SLC26A4 1229 CT in 2 cases, and one case of heterozygous mutation of SLC26A4 IVS7-2 AG was 2.27%. Conclusion GJB2 and SLC26A4 are the most common mutation loci in non-syndromic deafness patients in Guangxi and 8 mutation sites in SLC26A4. Significantly lower than the national average, Where SLC26A4 IVS11 47T? Cn1548ins C and GJB2 109AG are three newly discovered mutation sites. There is no significant difference in the mutation rate of deafness gene between Zhuang and Han nationality in this area. There may be rare deafness genes in non-syndromic deafness patients of Zhuang nationality in Guangxi. Rare mutation sites, Further study is needed.
【作者單位】： 廣西壯族自治區(qū)人民醫(yī)院耳鼻咽喉科;廣西中醫(yī)藥大學研究生學院;
【基金】：國家自然科學基金資助項目(No:81460097) 廣西醫(yī)療衛(wèi)生適宜技術研究與開發(fā)課題(No:S201421_05) 廣西壯族自治區(qū)衛(wèi)生廳自籌經費科研課題(No:Z2014215及Z2015351及Z2016608)~~
【分類號】：R764.43

【相似文獻】

相關期刊論文 前10條

1 趙輝,李榮華,王秋菊,嚴慶豐,韓東一,楊偉炎,管敏鑫;母系遺傳藥物性聾與非綜合征性聾大家系與基因突變的研究[J];中華耳科學雜志;2005年01期

2 李海波;李瓊;李紅;陳瑛;;非綜合征性聾突變熱點的流行病學分析[J];臨床耳鼻咽喉頭頸外科雜志;2012年13期

3 ;耳聾[J];國外科技資料目錄.醫(yī)藥衛(wèi)生;1997年05期

4 袁虎;趙亞麗;王秋菊;;COCH基因與非綜合征性聾的遺傳學研究[J];聽力學及言語疾病雜志;2006年02期

5 馬yN楠;劉玉和;田古;李玉杰;張英;王松濤;裴s，

本文編號：1618696