扬州市特教学校耳聋学生常见耳聋突变基因调查报告

目的:调查扬州地区非综合征性聋患儿常见耳聋突变基因的发病情况。方法:选择扬州市特教学校90例中、重度非综合征性聋学生为研究对象。在苏北人民医院医学检测中心利用耳聋基因芯片诊断试剂盒筛查常见的耳聋相关基因的9个热点突变,包括GJB2(35delG、176del16、235delC及299delAT),GJB3(538C>T),SLC26A4(IVS7-2A>G、2168A>G)和mtDNA 12SrRNA(A>G、1494C>T)。结果:在90例耳聋患者中,基因芯片方法共检出携带致聋基因突变64例(71.1%)。其中,GJB2基因突变40例(44.4%),包括235delC纯合突变20例(22.2%),235delC单杂合突变4例(4.4%),235delC和299delAT复合杂合突变2例(2.2%);299de-lAT单杂合突变2例(2.2%),299delAT纯合突变2例(2.2%);176del16单杂合突变2例(2.2%),176del16纯合突变2例(2.2%),176del16和235delC复合杂合突变6例(6.7%)。SLC26A4基因突变22例(24.4%),包括IVS7-2A>G纯合突变2例,IVS7-2A>G和2168A>G复合杂合突变2例(2.2%),IVS7-2A>G单杂合突变18例(20.0%);mtDNA 12SrRNA A>G纯合突变2例(2.2%);未检出GJB3基因突变。结论:应用基因诊断技术可以在耳聋患者病因调查中进行快速筛查诊断,值得推广应用。

Molecular etiology analysis among students with profound hearing loss in a special education school in Yangzhou

Objective:To study molecular epidemiological basis of non-syndremic hearing loss in Yangzhou area.Method:The selected objects were 90 severe non-syndrome deafness students in special education schools in Yangzhou city,Jiangsu province.The deafness gene chip diagnostic kit was used for screening the nine hot spots mutations in four common deafness-related genes in Medical Testing Center of Northern Jiangsu People′s Hospital.These nine hot spots gene mutations included GJB2(35 delG,176 del16,235 delC and 299 delAT)GJB3(538C>T),SLC26A4(IVS7-2A>G,2168A>G)and mtDNA 12S rRNA(A>G,1494C>T)mutation detection by line.Result:In 90 patients,64 patients were found to carry deafness mutations by using gene chip diagnostic kit(the rate of mutation was 71.7%) GJB2 gene mutation in 40 cases(44.4%)which included 235 delC homozygous in 20(22.2%) cases,235 delC single heterozygous mutation in 4cases(4.4%)and 235 delC and 299 delAT compound heterozygous mutations in 2 case(2.2%) separately.299 delAT single heterozygous mutation in 2 case(2.2%),299 delAT simple mutation in 2 case(2.2%).176 del16 heterozygous mutations in 2 case,176 del16 homozygous mutation in 2 case(2.2%).176 del16 heterozygous mutations,and 235 del C heterozygous mutation in 6 cases(6.7%).SLC26A4 gene mutations in 22 cases(24.4%),which included IVS7-2A> G homozygous in 2(2.22%) cases,IVS7-2A> G and 2168A> G compound heterozygous mutations in 2 cases(2.2%),IVS7-2A> G single heterozygous mutation in 18cases(20.2%),and mtDNA 12S rRNA A>G mutation in 2 cases(2.2%),GJB3 mutations were not detected.Conclusion: The deafness gene diagnostic techniques is worth applying for screening and diagnosis.