95例患儿的听力损失高危因素与耳聋基因的相关性  

Correlation between high-risk factors of hearing loss and deafness genes in 95 children

作　　者：余凤慈[1] 刘芸[1] 谭允宁[1] 邝雪芳[1] 何清泉[1] YU Fengci;LIU Yun;TAN Yunning;KUANG Xuefang;HE Qingquan(Department of Hearing Centre,Maternal and Child Health Hospital of Foshan,Guangdong Foshan 528000,China)

机构地区：[1]佛山市妇幼保健院耳鼻咽喉科,广东佛山528000

出　　处：《中国妇幼健康研究》2021年第12期1855-1860,共6页Chinese Journal of Woman and Child Health Research

基　　金：广东省佛山市科技局2015年佛山市医学类科技攻关项目(2015AB00391)。

摘　　要：目的探讨耳聋基因异常与听力损失高危因素的相关性。方法选择2015年1月1日至2017年12月31日前来佛山市妇幼保健院就诊有听力损失高危因素同时存在听力筛查异常的95例患儿进行常见4个耳聋基因(GJB2、GJB3、SLC26A4及线粒体12SrRNA)的20个突变位点检测。结果95例受检者中,发现耳聋基因突变者10例,其中GJB2基因突变占比为6.32%,SLC26A4基因突变占比为4.21%。具有永久性听力障碍家族史(先天性耳聋家族史)的听力损失患儿中检出耳聋基因突变9例,检出率最高(29.03%),与曾入住新生儿重症监护病房(NICU)有听力损失的其他疾病高危儿相比,差异有统计学意义(χ^(2)=5.622,P<0.05)。结论有永久性听力障碍家族史(先天性耳聋家族史)的家庭,耳聋遗传与耳聋基因关系异常密切,通过耳聋基因筛查可以早期发现遗传性耳聋者及耳聋基因携带者。早检测、早干预,可为耳聋遗传咨询提供可靠诊断依据,减少相同基因携带者婚配,对预防先天性耳聋患儿的出生有深远意义。Objective To investigate the correlation between deafness genetic abnormality and high-risk factors of hearing loss.Methods From January 1,2015 to December 31,2017,95 children who treated in Maternal and Child Health Hospital of Foshan with high-risk factors of hearing loss and abnormal hearing screening were given checks for the 20 mutations of four common deafness genes(GJB2,GJB,SLC26A4 and 12SrRNA).Results Among the 95 subjects,10 cases with deafness gene mutation were found.GJB2 gene mutations accounted for about 6.32%,SLC26A4 gene mutations accounted for about 4.21%.Deafness gene mutations were detected in 9 children with a family history of permanent hearing impairment(family history of congenital deafness),with the highest detection rate(29.03%).Compared with children at high risk of hearing loss who had been admitted to the neonatal intensive care unit(NICU),the difference was statistically significant(χ^(2)=5.622,P<0.05).Conclusion In families with a family history of permanent hearing impairment(a family history of congenital deafness),deafness inheritance is related to deafness genetic abnormalities.Genetic deafness and deafness gene carriers can be found through deafness gene screening.Early detection and early intervention contribute to providing basis for genetic counseling of deafness and reducing the marriage of carriers with the same gene,and have long-term significance in preventing the birth of children with congenital deafness in the future.

关 键 词：听力损失高危因素 耳聋基因突变 相关性 永久性听力障碍家族史 

分 类 号：R729[医药卫生—儿科]