苏北三市聋校学生常见致病基因的初步分析

Preliminary analysis of common pathogenic genes of deaf school students in three cities of Northern Jiangsu

目的对徐州、宿迁、连云港3市聋校558例耳聋学生进行GJB2及SLC26A4(solute carrier family 26 member4,溶质载体家族26成员4)基因突变多位点检测,在分子水平了解苏北3市耳聋患者的病因学特点及差异。方法采集徐州、宿迁、连云港3市特殊教育学校共558例耳聋患者的血样,提取DNA,利用SNPscan高通量检测技术对目标致病基因进行突变检测。结果3个地区共计发现GJB2基因致聋学生162例,SLC26A4基因致聋学生79例,致聋率分别为29.03%(162/558),14.16%(79/558),累计发现GJB2基因突变位点11个,SLC26A4基因突变位点20个。3个地区间GJB2及SLC26A4基因突变率无显著差异,但突变位点有所不同;GJB2基因突变致聋率高于SZC26A4基因突变致聋率;0/B2基因突变主要形式均为c.235delC纯合及杂合突变,SLC26A4基因突变主要形式均为c.919-2A>G纯合及杂合突变。结论0/B2及SZC26/W基因均为苏北3个地区耳聋人群中的常见致病基因。通过对这些基因的初步筛查可以有效避免高危人群出现耳聋患者,有助于各地区针对性开展防聋治聋措施。

Objective Mutations in GJB2(gap junction beta,gap junction 2)and SLC26A4(solute carrier family 26 member 4,solute vector family 26 member 4)were detected at multiple loci in 558 deaf students from Xuzhou,Suqian and Lianyungang deaf schools,so as to understand the etiological characteristics and differences of deaf patients in three cities of Northern Jiangsu at molecular level.Methods Blood samples of 558 students with hearing loss in special education schools were collected,mutations of GJB2 and SLC26A4 gene were screened by SNPscan and high-throughout sequencing technique.Results In the three regions,we found 161 deaf students caused by GJB2 gene mutations,80 deaf students caused by SLC26A4 gene mutations.The deafness rates were 29.03%(162/558)and 14.16%(79/558),respectively.There were 11 different GJB2 gene mutations and 20 different SLC26A4 gene mutations found.There was no significant difference in mutation rates of GJB2 and SLC26A4 genes among the three regions,but the mutation sites were different.The mutation deafness rate of GJB2 gene was higher than that of SLC26A4 gene.The main forms of GJB2 gene mutation were c.235 delC homozygous and heterozygous mutation,and the main mutation forms of SLC26A4 gene are c.919-2A>G homozygous and heterozygous mutations.Conclusions GJB2 and SLC26A4 gene are the common disease genes in all three cities of North Jiangsu.Preliminary screening of these genes can effectively avoid deafness in high-risk groups,and help to carry out targeted prevention and treatment measures for deafness in different regions.