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目的:分析中国新疆地区汉族和维吾尔族耳聋患者的常见耳聋基因突变,为该地区耳聋患者的临床基因诊断提供理论依据。方法:调查对象为新疆地区乌鲁木齐和库尔勒特教学校的125例耳聋患者,其中汉族64例,维吾尔族61例,听力检查全部为重度-极重度感音神经性聋。所有受检者均采集外周血并提取DNA,进行GJB2全序列、包含SLC26A4IVS7-2A>G、线粒体DNA12SrRNA1494和1555位点的突变分析。结果:新疆地区汉族耳聋患者GJB235delG和SLC26A4IVS7-2的等位基因频率分别为7.4%和10.1%,维吾尔族耳聋人群未发现GJB235delG和SLC26A4IVS7-2突变,两者比较差异有统计学意义。而GJB2235delC、299-300delAT及线粒体DNAA1555G、C1494T维吾尔族和汉族比较差异无统计学意义。结论:新疆地区汉族和维吾尔族GJB235delG和SLC26A4IVS7-2A>G有不同的等位基因频率,新疆地区汉族和维吾尔族常见耳聋基因突变存在异同。
Objective: To analyze the common deafness gene mutations in Han and Uighur deafness patients in Xinjiang region of China, and to provide theoretical basis for the clinical gene diagnosis of deafness patients in this area. Methods: A total of 125 cases of deafness were enrolled in Urumqi and Ku’erle Te teach schools in Xinjiang, including 64 Han patients and 61 Uighurs. The hearing tests were all severe-severe sensorineural deafness. All subjects were collected peripheral blood and DNA extraction for GJB2 full sequence, including SLC26A4IVS7-2A> G, mitochondrial DNA12SrRNA1494 and 1555 point mutation analysis. Results: The allele frequencies of GJB235delG and SLC26A4IVS7-2 in Han deaf patients in Xinjiang were 7.4% and 10.1%, respectively. There was no GJB235delG and SLC26A4IVS7-2 mutation in Uygur deafness patients, the difference was statistically significant. However, there was no significant difference between GJB2235delC, 299-300delAT and mitochondrial DNAA1555G, C1494T Uygur and Han nationality. CONCLUSION: There are different allele frequencies of GJB235delG and SLC26A4IVS7-2A> G in Han and Uygur nationalities in Xinjiang. There are similarities and differences in common deafness gene mutations between Han and Uighur ethnic groups in Xinjiang.