东莞地区16182名个体18个耳聋易感基因100个变异位点的测序筛查

目的确定东莞地区耳聋基因的变异类型和携带率。方法收集新生儿及门诊筛查的16182名个体,新生儿采集足跟血片,非新生儿采集外周静脉血样,对18个耳聋易感基因的100种变异进行检测。结果共检出1631例耳聋基因变异,总体检出率为10.08%,其中5例为纯合变异。SLC26A4基因变异的检出率最高(5.22%),共845例,其余依次为GJB2(673例,4.16%)、GJB3(100例,0.62%)、TMC1(12例,0.07%)、MYO15A(1例,0.01%)。GJB2基因c.235delC变异检出率最高(3.24%),共524例,其次为SLC26A4基因IVS7-2A>G变异(270例,1.67%)。33名个体(0.20%)同时携带两个变异,其中7例(0.04%)携带同一基因的复合杂合变异。结论扩大耳聋易感基因变异的筛查范围有助于了解携带情况及耳聋的遗传因素,对提早发现先天性耳聋、对受检者提供干预和遗传咨询具有重要的价值。

Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16182 individuals from Dongguan

Objective To determine the type and carrier rate of deafness-related variants in Dongguan,China.Methods A total of 16182 subjects were screened.Heel blood samples were collected from newborns,while peripheral venous blood samples were collected from the remainders.For each individual,100 variations of 18 deafness susceptibility genes were detected.Results In total 1631 deafness-related variants(including 5 homozygous mutations)were detected,which gave a detection rate of 10.08%.The detection rate of SLC26A4 gene variants was the highest(845 cases,5.22%),which was followed by GJB2(673 cases,4.16%),GJB3(100 cases,0.62%),TMC1(12 cases,0.07%),and MYO15A(1 case,0.01%).The detection rate for GJB2 c.235delC variant was the highest(524 cases,3.24%),which was followed by SLC26A4 IVS7-2A>G variant(270 cases,1.67%).Thirty three individuals(0.20%)carried two variants at the same time,7 of them(0.04%)carried compound heterozygous variants of the same gene.Conclusion To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.