918例听障人群耳聋基因筛查结果分析  

Analysis of Genetic Screening Results of 918 Hearing-Impaired People in Shandong Province

作　　者：孙毅 孙丽丽 潘持国 李猛 张斌 SUN Yi;SUN Li-li;PAN Chi-guo;LI Meng;ZHANG Bin

机构地区：[1]山东省康复研究中心

出　　处：《中国听力语言康复科学杂志》2019年第6期426-429,共4页Chinese Scientific Journal of Hearing and Speech Rehabilitation

摘　　要：目的了解山东省听障人群耳聋基因突变分布情况,探讨听障致病原因。方法采集山东省各地持证听障人士静脉血样本918例,使用耳聋基因芯片对中国最常见的耳聋基因和突变位点进行筛查,包括GJB2(35delG、176del16、235delC、299300delAT),SLC26A4(1174A>T、1226G>A、1229C>T、1975G>C、2027T>A、IVS7-2A>G、2168A>G),线粒体DNA 12S rRNA (1555A>G、1494C>T),GJB3(538C>T)。结果 918例听障人士检测出携带耳聋突变基因者417例,占总人数的45.42%,其中GJB2基因突变227例,携带率为24.73%;SLC26A4基因突变165例,携带率为17.97%;线粒体12SrRNA基因均质突变15例,携带率为1.63%;GJB3基因杂合突变8例,携带率为0.87%。结论山东省听障人群常见的4个耳聋基因基因热点突变主要集中在GJB2基因和SLC26A4基因上;药物性耳聋突变是预防的重点;通过对不同基因型个体进行婚育指导,可以降低聋-聋婚配中聋病的垂直传递,减少本地区新生听障儿童的出生。Objective To clearly understand the distribution of deafness gene mutations in hearing-impaired people in Shandong Province, so as to clarify the causes of hearing impairment. Methods A total of 918 venous blood samples from registered hearing-impaired people in Shandong province were collected. We applied rapid, high through output screening tests to detect hot spot mutations of four common deafness genes in China, including GJB2( 35 delG, 176 del16, 235 delC, 299300 delAT), SLC26A4(1174 A >T, 1226 G>A, 1229 C>T, 1975 G>C, 2027 T>A, IVS7-2 A>G, 2168 A>G), mitochondrial DNA 12 S rRNA(1555 A>G, 1494 C>T), GJB3(538 C>T). Results A total of 417 cases of deafness gene mutations were detected in 918 hearing-impaired people, accounting for 45.42% of the total number. There were 227 cases carrying mutations of GJB2 gene, a rate of 24.73%, and 165 cases carrying mutation of SLC26A4 gene, a rate of 17.97%. The mitochondrial 12 S rRNA gene homogeneous mutations were found in 15 cases, of rate of 1.63%;GJB3 gene heterozygous mutations were found in 8 cases with a rate of 0.87%. Conclusion Mutations in GJB2 and SLC26A4 genes are the most common causes of the hot spot mutations of four common deafness genes in Shandong. Prevention is the key to the druginduced deafness mutation,Marriage and childbirth guidance distinguished by genotype differences for individuals can reduce the vertical transmission risk in marriages between deaf people and reduce the birth of deaf children in the region.

关 键 词：听障人士 耳聋基因筛查 基因芯片 婚育指导 

分 类 号：R[医药卫生]