1500例婴幼儿先天性耳聋基因检测结果研究

Study on the Results of Congenital Deafness Genetic Testing in 1500 Infants

目的观察分析1500例婴幼儿先天性耳聋基因检测结果。方法选取本院(在2016年2月至2019年2月)出生的1500例婴幼儿一般资料,采用聚合酶链式扩增反向点杂交法检测1500例婴幼儿的4个基因。结果1500例婴幼儿中共检测出36例基因携带者(占2.4%),其中有18例GJB2基因突变(占1.2%,18/1500)、10例SLC26A4基因突变(占0.7%,10/1500)、5例GJB3基因突变(占0.3%,5/1500)、3例12SrRNA基因突变(占0.2%,3/1500)。各组数据比较差异有统计学意义(P<0.05)。结论1500例婴幼儿先天性耳聋基因检测结果发现GJB2基因突变为主。

Objective To observe and analyze the genetic test results of congenital deafness in 1500 infants.Methods A total of 1500 infants and young children born in our hospital(February 2016-February 2016)were enrolled.Four genes from 1500 infants and young children were detected by polymerase chain amplification reverse dot blot hybridization.Results A total of 36 gene carriers(2.4%)were detected in 1500 infants,including 18 GJB2 mutations(1.2%,18/1500)and 10 SLC26A4 mutations(0.7%,10/1500).5 cases of GJB3 gene mutation(accounting for 0.3%,5/1500),3 cases of 12SrRNA gene mutations(0.2%,3/1500).The difference between the data of each group was statistically significant(P<0.05).Conclusion The detection of congenital deafness in 1500 infants and young children found that the GJB2 gene mutation was dominant.