烟台地区3785例新生儿遗传性耳聋基因位点筛查分析  

Analysis of Deafness Genes Screening of 3785 Newborns in Yantai Area

作　　者：张彦红 高凌云[1] 李颖斌 马莉[1] 刘日明[1] ZHANG Yan-hong;GAO Ling-yun;LI Ying-bin;MA Li;LIU Ri-ming

机构地区：[1]烟台毓璜顶医院检验科,烟台264000

出　　处：《中国听力语言康复科学杂志》2022年第5期354-357,360,共5页Chinese Scientific Journal of Hearing and Speech Rehabilitation

摘　　要：目的 评估烟台地区新生儿耳聋基因的突变情况,为遗传性耳聋患者的临床治疗提供参考。方法 采集3785例出生3d的新生儿足底血血斑,提取人基因组DNA。利用微阵列芯片杂交法检测4个遗传性耳聋基因(GJB2、GJB3、SLC26A4及mtDNA 12S rRNA)15个位点,并用Sanger测序法对突变位点进行确证。将烟台地区新生儿耳聋基因突变情况与山东省平均突变情况进行比较。同时,针对相同的检测方法(微阵列芯片检测法)和相同的筛查位点(4个基因15个位点),将烟台地区与淄博地区进行耳聋基因突变情况的比较。结果 3785例新生儿共检出255例耳聋基因突变携带者,突变率为6.74%(255/3785)。单基因突变242例,包括134例GJB2、85例SLC26A4、12例GJB3和11例mt DNA 12S rRNA,其突变率分别是3.55%、2.25%、0.32%和0.29%。两个位点复合突变13例,其中非等位基因复合突变6例,等位基因复合突变5例,2例核基因与线粒体基因复合突变。烟台地区耳聋基因总突变率和GJB2基因突变率明显高于山东省平均突变情况(χ^(2)=32.20,P<0.001),而SLC26A4、GJB3和mtDNA 12S rRNA基因突变率与山东省平均突变情况相比,无显著差异(P>0.05)。与淄博地区相比,烟台地区耳聋基因总突变率和GJB2突变率明显偏高(χ^(2)=81.22,P<0.001)。结论 烟台地区新生儿携带的耳聋基因以GJB2突变为主,且该基因的突变率明显高于山东省平均突变率。此研究有助于及时明确本地区新生儿听力损失的病因,尽早对遗传性耳聋患者进行干预。Objective To evaluate the mutation of neonatal deafness gene in Yantai area, and to provide reference for clinical treatment of hereditary deafness patients. Methods The human genomic DNA was extracted from 3785 newborn plantar blood spots about 3 days old. Fifteen gene locus of four genes(GJB2, GJB3, SLC26A4 and mt DNA 12S rRNA) of hereditary deafness were detected by microarray hybridization, and the samples with mutation locus were confirmed by Sanger sequencing. The mutation of neonatal deafness gene in Yantai was compared with that in Shandong province. Meanwhile, the same detection method(microarray chip detection method) and the same screening sites(4 genes, 15 sites) were used to compare the deafness gene mutations between Yantai and Zibo areas. Results A total of 255 deafness gene mutation carriers were detected in 3785 newborns, and the mutation rate was 6.74%(255/3785). There were 242 single gene heterozygous mutations, including 134 GJB2, 85 SLC26A4, 12 GJB3 and 11mt DNA 12S rRNA, and the mutation rates were 3.55%, 2.25%, 0.32% and 0.29%, respectively. There were 13 cases of compound mutations at two sites, including 6 cases of non-allele compound mutations, 5 cases of allele compound mutations, and 2 cases of nuclear and mitochondrial compound mutations. The total mutation rate of deafness gene and GJB2 gene in Yantai area were significantly higher than the average mutation rate in Shandong Province(χ^(2)=32.20, P<0.001), while the mutation rates of SLC26A4,GJB3 and mtDNA 12S rRNA gene were not statistically different from the average mutation rate in Shandong Province(P>0.05).Compared with Zibo area, the total mutation rate of deafness gene and the mutation rate of GJB2 in Yantai area were significantly higher(χ^(2)=81.22, P<0.001). Conclusion In Yantai area, GJB2 mutation is the main gene of neonatal deafness, and the mutation rate of this gene is significantly higher than the average matation rate in Shandong province, which is helpful to timely identify the cause of neonatal hearing loss in thi

关 键 词：遗传性耳聋 基因筛查 突变 新生儿 

分 类 号：R722.1[医药卫生—儿科]