黑龙江省非综合性耳聋基因位点的研究

Genetic Analysis of Genes related to Non-syndromic Hearing Loss in Heilongjiang Province

目的:分析黑龙江地区新生儿耳聋易感基因的携带情况。方法:选取2014年6月至2015年3月在我院出生、义诊以及门诊筛查的新生儿1036例,采取EDTA抗凝静脉全血,提取基因组DNA进行PCR,利用直接测序法检测非综合性耳聋常见突变基因GJB2、SLC26A4及线粒体12S rRNA。结果:1036例新生儿中,64例筛查阳性,阳性检出率6.18%。其中GJB2 235del C 26例,35del G 3例,109G>A 5例,176-191del16 4例,299-300delAT 9例,SLC26A4IVS7-2 14例,SLC2168 3例,12S rRNA突变2例。其中有家族史的新生儿63例,携带耳聋基因的患儿17例,阳性检出率为27.0%。结论:GJB2 235del C和SLC26A4 IVS7-2为本省的高发致病位点,对新生儿进行耳聋基因筛查,亦或对年轻夫妇进行孕前检查,部分耳聋可早期发现,制定相应的干预措施,可预防或降低耳聋的发生。

Objective： To investigate the occurrence and carrying status of mutant loci related to nonsyndromic sensorineural hearing loss in newborns of Heilongjiang province. Methods： Genomic DNAs were isolated from blood specimens obtained from 1036 neonates borns in our hospital between June 2014 and March 2015, the products of 3 deafness-associated genes（GJB2, SLC26A4 and mitochondrial DNA 12SrRNA） were amplified by PCR and then used for mutation screening by directed sequencing. Results： Among1036 neonates, 64 cases had mutant loci which referred as positive results, the positive rate was 6.18%.In these mutation positive neonates,47 cases were found with GJB2 gene mutation, 17 cases presented SLC26 A4 gene mutation, 2 cases were found with 12 SrRNA gene mutation. Among 1036 neonates, 63 cases had family history, 17 cases were found with deafness-rated suscepibility genes, the positive rate was 27.0%. Conclusions： GJB2 235 and SLC26A4 IVS7-2 were two typical pathogenic mutant sites in Heilongjiang province. Our results suggested that deafness can be detected by new born molecular genetic screening. Also, pre pregnancy tests for the parents can help making corresponding intervention measures to prevent or reduce the incidence of deafness.