【摘要】 目的利用基因诊断的方法调查重庆市非综合征型耳聋患儿的常见分子病因,对GJB2基因编码区突变进行分析。方法调查对象来自重庆医科大学附属儿童医院耳鼻咽喉科门诊收集195散发非综合征型耳聋患儿(耳聋组),其中108例语前聋患儿,87例语后聋患儿;对照组为听力检测正常的重庆市儿童100例。所有受检者均采集外周血并提取DNA,进行GJB2基因编码区测序。结果108例语前聋患儿中GJB2基因致病突变的复合杂合和纯合个体有23例,占语前聋个体的21.29%;87例语后聋患儿中GJB2基因致病突变的复合杂合和纯合个体有3例,占语后聋个体的3.45%。结论语前聋患者GJB2基因致病突变阳性率明显高于语后聋患者,语前聋患者常规进行GJB2基因检测可从基因水平明确诊断,并为耳聋患者提供重要遗传信息。更多还原

【Abstract】 Objective To investigate the genetic causes of nonsymdromic deaf patients in Chongqing city,Inner Mongolia by genetic screening testing method.This study focused on analyzing mutations of coding sequence of GJB2 gene.Methods DNA were extracted out from peripheral blood of 195 nonsyndromic deaf child of Chongqing and 100 normal hearing controls in Chongqing.GJB2 gene mutation was analyzed by direct sequencing.Results There were 23 children with homozygous and compound heterozygous pathogenic mutations of GJB2 gene in 108 prelingual deafness children(21.29%).3 children with homozygous and compound heterozygous pathogenic mutations of GJB2 gene in 87 prelingual deafness children(3.45%).Conclusion This study showed that frequencies of known pathogenic alleles of GJB2 gene were significantly higher in prelingual deafness than postlingual deafness.Routine detection of mutations in GJB2 gene is necessary,which not only give certain diagnosis from molecularlevel but also offer genetic information to the deafness.更多还原