摘要
目的 应用高通量测序对新生儿进行耳聋基因筛查,评估海南省新生儿遗传性耳聋基因的突变频率和类型。方法 选取海南省2021年1月—12月送检的6337例新生儿足跟血制成干血斑,应用高通量测序技术,对耳聋基因的24个基因208个位点进行检测,新生儿听力筛查技术按照海南省新生儿听力筛查方案进行。采用Excel表格、SPSS18.0统计软件对检测结果进行统计分析。结果 6337例新生儿检出耳聋基因突变1700例,阳性率为26.83%。检测出单基因突变1655例(26.12%),检出双基因突变45例(0.71%),未检测到多个基因同时突变。单基因和双基因共检出GJB2突变1576例(24.87%)、SLC26A4 92例(1.45%)、MT-RNR1 41例(0.65%)、GJB3 21例(0.33%)、LRTOMT 2例(0.03%)、TMPRSS3 10例(0.16%)、USH2A 3例(0.05%)。检出前3位突变位点分别为c.109G>A 1496例(23.61%)、c.235delC 72例(1.14%)、c.919-2A>G 48例(0.76%)。确诊听力障碍17例,其中16例耳聋基因筛查异常。结论 国内不同地区新生儿耳聋基因筛查方式、所查基因及位点存在差异,耳聋基因阳性检出率不尽相同,是否有地区差异值得进一步探讨。新生儿的基因结果和临床听力诊断结果并不完全一致,应加强阳性病例的后期随访。
Objective High-throughput sequencing was used to screen deafness genes for newborns,and evaluate the mutation frequency and type of hereditary deafness genes of newborns in Hainan Province.Methods With informed consent,6337 newborns'heel blood from January to December 2021 in Hainan Province were collected to make dry blood spots.High-throughput sequencing technology was applied to detect the 208 sites of 24 genes of deafness genes,and the neonatal hearing screening technology was carried out in accordance with the neonatal hearing screening program of Hainan Province.Excel and SPSS18.0 statistical software are used to statistically analyze the test results.Results 6337 newborns were detected with 1700 cases of deafness gene mutation,and the positive rate was26.83%(1700/6337).The single-gene mutations were detected with 1655 cases(26.12%),two-gene mutations were detected with 45 cases(0.71%),and no simultaneous mutations of multiple genes were detected.The detecting results indicated 1576 cases of GJB2(24.87%),92 cases of SLC26A4(1.45%),41 cases of MT-RNR1(0.65%),21 cases of GJB3(0.33%),2 cases of LRTOMT(0.03%),10 cases of TMPRSS3(0.16%),and 3 cases of USH2A(0.05%)in single and double gene.The first three mutation sites were c.109G>A 1496 cases(23.61%),c.235delC 72 cases(1.14%),and c.919-2A>G 48 cases(0.76%).17 cases of hearing impairment were confirmed,of which 16 cases were abnormal in gene screening for deafness.Conclusion There are differences in the screening methods,detected genes and sites of neonatal deafness gene in different regions of China,and the positive detection rate of deafness gene is different,whether there is regional differences is worth further exploration.The genetic results of newborns are not consistent with the clinical hearing diagnosis results,and the follow-up of positive cases should be strengthened.
作者
范霞林
曹霞
黄翠敏
樊利春
FAN Xialin;CAO Xia;HUANG Cuimin;FAN Lichun(Hainan women and children medical center,Haikou 570000,China)
出处
《中华耳科学杂志》
CSCD
北大核心
2024年第2期242-250,共9页
Chinese Journal of Otology
基金
海南省卫生健康行业科研项目(19A200106)。
关键词
新生儿
耳聋基因
筛查结果
newborn
deafness gene
screening results
