新疆喀什地区629例非综合征型耳聋患者常见耳聋基因调查研究
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摘要
目的:研究新疆喀什地区非综合征型耳聋常见耳聋基因及其突变位点的分子流行病学及突变特征。方法:对新疆喀什地区629例重度、极重度非综合征型感音神经性聋患者,用晶芯耳聋基因试剂盒进行GJB2、SLC26A4、mtRNA、GJB3基因10个位点检测,检测阴性患者继续GJB2耳聋基因外显子测序。结果:629例患者中,GJB2基因突变检出率最高,为60.29%(41/68);SLC26A4为8.82%(6/68);mtRNA为30.88%(21/68);GJB3为0%(0/68)。结论:GJB2基因、SLC26A4、线粒体基因mtRNA为新疆喀什地区非综合征型耳聋常见致病基因。
Objective:To investigate the epidemiological analysis of the GJB2,SLC26A4,mtRNA and GJB3 gene in nonsyndromic hearing loss in Kashi in Xinjiang.Method:In this study,we analyzed the mutations of GJB2,SLC26A4,mitochondrial mtRNA and GJB3 gene mutations in 629 cases of patients with nonsyndromic hearing loss in Kashi in Xinjiang by using the gene kit.Result:The proportion of GJB2 gene mutation was 60.29%(41/68),the SLC26A4 and mtRNA were 8.82%(6/68)and 30.88%(21/68)respectively.Conclusion:GJB2gene,SLC26A4,mtRNA gene are common cause of nonsyndromic hearing loss in Xinjiang.
Objective:To investigate the epidemiological analysis of the GJB2,SLC26A4,mtRNA and GJB3 gene in nonsyndromic hearing loss in Kashi in Xinjiang.Method:In this study,we analyzed the mutations of GJB2,SLC26A4,mitochondrial mtRNA and GJB3 gene mutations in 629 cases of patients with nonsyndromic hearing loss in Kashi in Xinjiang by using the gene kit.Result:The proportion of GJB2 gene mutation was 60.29%(41/68),the SLC26A4 and mtRNA were 8.82%(6/68)and 30.88%(21/68)respectively.Conclusion:GJB2gene,SLC26A4,mtRNA gene are common cause of nonsyndromic hearing loss in Xinjiang.
引文
[1][No authors listed].Hearing loss:an important global health concern[J].Lancet,2016,387:2351-2351.
[2]王洪阳,熊文萍,关静,等.伴发单侧突发性聋的遗传性聋1例:Gjb2 235delc纯合突变相关的迟发型中度听力损失[J].临床耳鼻咽喉头颈外科杂志,2016,30(14):1136-1138.
[3]瞿剑伟,王建峰,徐思思,等.线粒体DNA突变_氨基糖苷类抗生素与耳聋[J].临床耳鼻咽喉头颈外科杂志,2015,29(22):1936-1940.
[4]FAUNDES V,PARDO R A,CASTILLO TAUCHER S.Genetics of congenital deafness[J].Med Clin(Barc),2012,139:446-451.
[5]KELSELL D P,DUNLOP J,STEVENS H P,et al.Connexin 26 mutations in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80-83.
[6]MARTNEZ A D,ACUA R,FIGUEROA V,et al.Gap-junction channels dysfunction in deafness and hearing loss[J].Antioxid Redox Signal,2009,11:309-322.
[7]GREEN G E,SCOTT D A,MCDONALD J M,et al.Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness[J].JAMA,1999,281:2211-2216.
[8]CRYNS K.A genotype-phenotype correlation for GJB2(connexin 26)deafness[J].J Med Genet,2004,41:147-154.
[9]POPOVA D P,KANEVA R,VARBANOVA S,et al.Prevalence of GJB2mutations in patients with severe to profound congenital nonsyndromicsensorineural hearing loss in Bulgarian population[J].Eur Arch Otorhinolaryngol,2012,269:1589-1592.
[10]IMTIAZ F,TAIBAH K,RAMZAN K,et al.A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the saudi arabian population[J].BMC Med Genet,2011,12:91-91.
[11]戴朴,刘新,于飞.18个省市聋校学生非综合征性聋病分子流行病学研究(I)—GJB2 235del C和线粒体DNA 12SrRNAA1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.
[12]汪常伟,蔡小牛,邹广华,等.新疆哈萨克族非综合征型聋GJB2基因突变的研究分析[J].临床耳鼻咽喉头颈外科杂志,2014,28(10):676-679.
[13]陈俞,赵娟,皮力东·库亚西,等.新疆不同民族耳聋人群耳聋基因常见突变的筛查[J].新疆医科大学学报,2011,34(8):850-854.
[2]王洪阳,熊文萍,关静,等.伴发单侧突发性聋的遗传性聋1例:Gjb2 235delc纯合突变相关的迟发型中度听力损失[J].临床耳鼻咽喉头颈外科杂志,2016,30(14):1136-1138.
[3]瞿剑伟,王建峰,徐思思,等.线粒体DNA突变_氨基糖苷类抗生素与耳聋[J].临床耳鼻咽喉头颈外科杂志,2015,29(22):1936-1940.
[4]FAUNDES V,PARDO R A,CASTILLO TAUCHER S.Genetics of congenital deafness[J].Med Clin(Barc),2012,139:446-451.
[5]KELSELL D P,DUNLOP J,STEVENS H P,et al.Connexin 26 mutations in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80-83.
[6]MARTNEZ A D,ACUA R,FIGUEROA V,et al.Gap-junction channels dysfunction in deafness and hearing loss[J].Antioxid Redox Signal,2009,11:309-322.
[7]GREEN G E,SCOTT D A,MCDONALD J M,et al.Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness[J].JAMA,1999,281:2211-2216.
[8]CRYNS K.A genotype-phenotype correlation for GJB2(connexin 26)deafness[J].J Med Genet,2004,41:147-154.
[9]POPOVA D P,KANEVA R,VARBANOVA S,et al.Prevalence of GJB2mutations in patients with severe to profound congenital nonsyndromicsensorineural hearing loss in Bulgarian population[J].Eur Arch Otorhinolaryngol,2012,269:1589-1592.
[10]IMTIAZ F,TAIBAH K,RAMZAN K,et al.A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the saudi arabian population[J].BMC Med Genet,2011,12:91-91.
[11]戴朴,刘新,于飞.18个省市聋校学生非综合征性聋病分子流行病学研究(I)—GJB2 235del C和线粒体DNA 12SrRNAA1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.
[12]汪常伟,蔡小牛,邹广华,等.新疆哈萨克族非综合征型聋GJB2基因突变的研究分析[J].临床耳鼻咽喉头颈外科杂志,2014,28(10):676-679.
[13]陈俞,赵娟,皮力东·库亚西,等.新疆不同民族耳聋人群耳聋基因常见突变的筛查[J].新疆医科大学学报,2011,34(8):850-854.