郑州市53873例新生儿耳聋基因筛查的结果分析

Analysis of hereditary deafness gene variants among 53873 neonates from Zhengzhou

目的探讨郑州市53873名新生儿耳聋基因的变异情况及携带率。方法采集新生儿足跟血样,用微阵列芯片检测与遗传性耳聋相关的4个基因的15个位点。结果共筛查出2770例携带变异,携带率为5.142%。1325例新生儿携带GJB2基因杂合变异,携带率为2.459%;1071例(1.988%)携带SLC26A4基因杂合变异;205例(0.381%)携带GJB3基因杂合变异;120例(0.223%)携带12S rRNA基因均质或异质变异;5例携带GJB2纯合变异;2例携带SLC26A4纯合变异;5例携带GJB2复合杂合变异;4例携带SLC26A4复合杂合变异。33例同时携带两个基因的杂合变异。结论郑州市新生儿耳聋基因的变异频率依次为GJB2、SLC26A4、GJB3>12S rRNA,常见的变异包括GJB2235delC和SLC26A4 IVS7-2A>G,与国内其他地区相似。开展新生儿耳聋基因筛查有助于发现先天性、迟发性及药物性耳聋,及早开展治疗和随访。

Objective To determine the carrier rate of deafness-related genetic variants among 53873 newborns from Zhengzhou.Methods Heel blood samples of the newborns were collected with informed consent from the parents,and 15 loci of 4 genes related to congenital deafness were detected by microarray.Results In total 2770 newborns were found to carry deafness-related variants,with a carrier rate of 5.142%.1325 newborns(2.459%)were found to carry heterozygous variants of the GJB2 gene,1071(1.988%)were found with SLC26A4 gene variants,205 were found with GJB3 gene variants(0.381%),and 120 were found with 12S rRNA variants(0.223%).Five newborns have carried homozygous GJB2 variants,two have carried homozygous SLC26A4 variants,five have carried compound heterozygous GJB2 variants,and four have carried compound heterozygous SLC26A4 variants.33 neonates have carried heterozygous variants of two genes at the same time.Conclusion The carrier rate of deafness-related variants in Zhengzhou,in a declining order,is for GJB2,SLC26A4,GJB3 and 12S rRNA.The common variants included GJB2235delC and SLC26A4 IVS7-2A>G,which are similar to other regions in China.To carry out genetic screening of neonatal deafness can help to identify congenital,delayed and drug-induced deafness,and initiate treatment and follow-up as early as possible.