【摘要】：目的：通過對云南省聾啞患者SLC26A4基因突變的檢測和分子流行病學研究,初步掌握SLC26A4基因突變在此地區(qū)耳聾患者的分布特點,同時了解突變在云南省各個少數(shù)民族人群中的分布特點。方法：在知情同意的前提下對云南省華夏中等專業(yè)學校235名聾啞學生進行臨床資料的采集,抽取外周靜脈血并提取基因組DNA,進行SLC26A4基因編碼的20個外顯子進行若點突變篩查輔以全序列外顯子測序,即先篩查7+8外顯子IVS7-2位點的突變,發(fā)現(xiàn)雙等位基因突變的患者不再繼續(xù)篩查其他外顯子,對發(fā)現(xiàn)IVS7-2G＞A單等位基因突變的患者篩查全序列所有剩余外顯子,未發(fā)現(xiàn)7+8外顯子任何突變的患者再篩查第10外顯子和第19外顯子,檢測到外顯子10、19雙等位基因突變(包含純合突變和復合雜合突變)的個體不再篩查其他外顯子,對于檢測到外顯子10和19中任何單等位基因突變的患者均行20個外顯子全序列測序,回訪時對攜帶有SLC26A4基因突變的聾啞學生和所有少數(shù)民族學生及隨機抽取47名不攜帶任何SLC26A4基因突變的學生總計100名患者行雙側(cè)顳骨薄層高分辨率CT檢查。結(jié)果：233名聾啞學生為非綜合征聾,23例攜帶有SLC26A4基因突變(9.79%,23/235),包括5種多態(tài)性改變,IVS7-2AG等位基因突變頻率最高(4.68%,22/470),其次2168GA(0.64%,3/470),對其中16名行雙側(cè)顳骨薄層CT掃描發(fā)現(xiàn)除兩例多態(tài)性改變的患者結(jié)果正常外,余14例患者均表現(xiàn)為雙側(cè)前庭水管擴大。在所有42名少數(shù)民族學生的顳骨CT結(jié)果中4例表現(xiàn)為雙側(cè)前庭水管擴大,其中3例均攜帶有SLC26A4基因突變,1例未發(fā)現(xiàn)任何突變。其余受檢者的CT檢查結(jié)果均正常。結(jié)論：通過對云南省華夏中等專業(yè)學生進行SLC26A4基因檢測結(jié)合內(nèi)耳影像學檢查,診斷前庭導水管擴大14例,為該校5.9%(14/235)學生明確了耳聾病因,IVS7-2AG也是云南省SLC26A4基因最為常見的突變,其次為2168AG。
[Abstract]:Objective: to investigate the distribution of SLC26A4 gene mutation in deaf-mute patients in Yunnan province and its molecular epidemiology. At the same time, we know the distribution characteristics of mutation in different ethnic groups in Yunnan province. Methods: with informed consent, 235 deaf and mute students in Yunnan Huaxia secondary vocational school were collected clinical data, peripheral venous blood was extracted and genomic DNA, was extracted. Twenty exons encoded by SLC26A4 gene were screened for point mutation, followed by full sequence exon sequencing, that is, mutation at exon 7 8 IVS7-2 site was screened first, and patients with double allele mutation were not to continue to screen other exons. All remaining exons were screened in patients with single allele mutation of IVS7-2G > A, and exon 10 and exon 19 were screened in patients with no mutation in exon 78. Individuals with double alleles (including homozygous mutations and complex heterozygous mutations) detected in exon 1019 were not screened for other exons. For patients with any single allele mutation in exons 10 and 19, 20 full exons were sequenced. A total of 100 deaf-mute students with SLC26A4 gene mutation and all minority students and 47 students without any SLC26A4 gene mutation were examined by thin layer high-resolution CT of bilateral temporal bone. Results: 233 deaf-mute students were non-syndromic deafness, 23 cases were carrying SLC26A4 gene mutation (9.79% 23 / 235), including 5 kinds of polymorphic changes, the frequency of IVS7-2AG allele mutation was the highest (4.68% 22 / 470). Secondly, 2168GA (0.64 / 470), 16 of them underwent thin slice CT scanning of bilateral temporal bone and found that the results were normal in 2 patients with polymorphic changes, and the other 14 patients showed bilateral vestibular aqueduct enlargement. Of the 42 minority students, 4 showed bilateral vestibular aqueduct enlargement, 3 of them had SLC26A4 gene mutation, and 1 had no mutation. The CT results of other subjects were normal. Conclusion: 14 cases of vestibular aqueduct dilatation were diagnosed by SLC26A4 gene test and inner ear imaging examination. The etiology of deafness was determined for 5.9% (14 / 235) students. IVS7-2AG is also the most common mutation of SLC26A4 gene in Yunnan Province, followed by 2168AG.
【學位授予單位】：昆明醫(yī)學院
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：R764.43

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