云南省聋哑患者SLC26A4基因与前庭水管扩大相关性的分子流行病学研究

发布时间：2018-11-11 09:38

【摘要】：目的：通过对云南省聋哑患者SLC26A4基因突变的检测和分子流行病学研究,初步掌握SLC26A4基因突变在此地区耳聋患者的分布特点,同时了解突变在云南省各个少数民族人群中的分布特点。方法：在知情同意的前提下对云南省华夏中等专业学校235名聋哑学生进行临床资料的采集,抽取外周静脉血并提取基因组DNA,进行SLC26A4基因编码的20个外显子进行若点突变筛查辅以全序列外显子测序,即先筛查7+8外显子IVS7-2位点的突变,发现双等位基因突变的患者不再继续筛查其他外显子,对发现IVS7-2G＞A单等位基因突变的患者筛查全序列所有剩余外显子,未发现7+8外显子任何突变的患者再筛查第10外显子和第19外显子,检测到外显子10、19双等位基因突变(包含纯合突变和复合杂合突变)的个体不再筛查其他外显子,对于检测到外显子10和19中任何单等位基因突变的患者均行20个外显子全序列测序,回访时对携带有SLC26A4基因突变的聋哑学生和所有少数民族学生及随机抽取47名不携带任何SLC26A4基因突变的学生总计100名患者行双侧颞骨薄层高分辨率CT检查。结果：233名聋哑学生为非综合征聋,23例携带有SLC26A4基因突变(9.79%,23/235),包括5种多态性改变,IVS7-2AG等位基因突变频率最高(4.68%,22/470),其次2168GA(0.64%,3/470),对其中16名行双侧颞骨薄层CT扫描发现除两例多态性改变的患者结果正常外,余14例患者均表现为双侧前庭水管扩大。在所有42名少数民族学生的颞骨CT结果中4例表现为双侧前庭水管扩大,其中3例均携带有SLC26A4基因突变,1例未发现任何突变。其余受检者的CT检查结果均正常。结论：通过对云南省华夏中等专业学生进行SLC26A4基因检测结合内耳影像学检查,诊断前庭导水管扩大14例,为该校5.9%(14/235)学生明确了耳聋病因,IVS7-2AG也是云南省SLC26A4基因最为常见的突变,其次为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.
【学位授予单位】：昆明医学院
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R764.43

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