3163例新生儿十五项耳聋基因筛查结果分析

An analysis of results of 15 deafness gene screenings in 3163 newborn babies

目的评估杭州地区新生儿的耳聋基因突变情况,为遗传咨询提供参考。方法回顾性分析2018年6月~2019年6月在杭州市妇产科医院进行新生儿十五项耳聋基因筛查的标本,共3163例。使用微阵列芯片杂交法对遗传性耳聋相关的15个突变位点进行检测,并用Sanger测序法对有突变位点的样本进行相应确证。结果在3163例新生儿中,检测到168例耳聋基因突变携带者(检测到171个突变位点),突变基因携带率为5.31%(168/3163),其中单杂合突变型158例,235del C/299del AT复合突变1例,235delC纯合突变1例、176del 16/538C>T双突变1例,1494C>T突变1例,1555A>G突变7例。结论检测的4个基因15个突变位点中,以GJB2基因235delC位点突变最高。本研究丰富了十五项耳聋基因筛查及突变位点携带率流行病学的资料,为杭州地区耳聋的遗传咨询及预防提供依据。

Objective To evaluate the mutation of deafness genes among newborn babies in Hangzhou area so as to provide reference for genetic counseling.Methods A total of 3163 cases of 15 deafness gene screenings among newborn babies carried out in Hangzhou Women's Hospital from June 2018 to June 2019 were retrospective analyzed.Microarray chip hybridization was used to detect 15 mutation sites related to hereditary deafness,and Sanger sequencing was used to confirm the samples with mutation sites.Results A total of 168 deafness gene mutation carriers(with 171 mutation sites detected)were detected among 3163 newborn babies,with a mutation gene carrying rate of 5.31%(168/3163),including 158 cases of single heterozygous mutation,1 case of 235del C/299del AT compound mutation,1 case of 235del C homozygous mutation,1 case of 176del 16/538C>T double mutation,1 case of 1494 C>T mutation,and 7 cases of 1555A>G mutation.Conclusion Among the 15 mutation sites of the 4 genes detected,the 235del C site of GJB2 gene has the highest mutation.The study has enriched the epidemiological data of 15 deafness gene screenings and mutation site carrying rates,providing basis for counseling on and prevention of inheritance of deafness in Hangzhou area.