常德市新生儿听力与耳聋基因联合筛查结果分析  

Analysis of combined screening of newborn hearing and deafness genes in Changde City

作　　者：刘骏 吴梅芳 林婷 陈子雪 夏蓉 欧露 龚志峰 赵华丽 王琼 LIU Jun;WU Mei-fang;LIN Ting;CHEN Zi-xue;XIA Rong;OU Lu;GONG Zhi-feng;ZHAO Hua-li;WANG Qiong(Department of Medical Genetics and Prenatal Diagnosis,Changde Maternal and Child Health Hospital,Changde,Hunan 415000,China)

机构地区：[1]常德市妇幼保健院医学遗传与产前诊断科,湖南常德415000

出　　处：《中国妇幼保健》2025年第3期404-409,共6页Maternal and Child Health Care of China

基　　金：湖南省常德市科技创新项目(CDKJJ20220050)。

摘　　要：目的分析常德市的新生儿耳聋基因筛查现状,探讨听力与基因联合筛查的实际应用及有效性,评估民族等特征对遗传筛查结果的影响。方法选取2022年1月—2023年8月在常德市妇幼保健院进行听力筛查的新生儿5551例,并利用目标区域捕获测序技术筛查耳聋相关的4个基因的20个变异位点,分析民族等因素对突变携带率的影响。对所有新生儿进行为期1年的随访,了解家族史、听力状况及干预措施。结果5551例新生儿中有267例新生儿至少携带一种耳聋基因突变,检出率为4.81%,其中44例携带线粒体基因变异,18例携带GJB3基因变异。少数民族新生儿的耳聋基因携带率高于汉族新生儿,有家族史的新生儿携带耳聋基因的风险显著增加。结论对常德市少数民族地区实施新生儿听力和耳聋基因联合筛查,有助于了解少数民族人群耳聋基因的携带特征,通过分析民族等人群特征因素的影响,可以对不同人群实施有针对性的筛查管理方法。这为进一步提高筛查模式提供参考,从而从根本上降低耳聋出生缺陷的发生率。Objective This study analyzes the current status of newborn hearing loss genetic screening in the ethnic minority-populated area of Changde City.It investigates the practical application and effectiveness of combined hearing and genetic screening,and assess the influence of ethnicity and other factors on screening outcomes.Methods A total of 5551 neonates underwent hearing screening in Changde Maternal and Child Health Hospital from January 2022 to August 2023.Targeted region capture sequencing was used to screen 20 mutation sites across 4 deafness-related genes,analyzing the influence of factors such as ethnicity on the mutation carrier rate.All newborns were followed for one year to assess family history,hearing status,and intervention measures.Results Among the 5551 newborns,267 were identified as carrying at least one gene mutation associated with hearing loss,resulting in a detection rate of 4.81%.Of these,44 carried mitochondrial gene mutations and 18 carried GJB3 gene mutations,The carrier rate of deafness-related genes was higher in ethnic minorities compared to the Han population,and the risk of carrying these genes was significantly higher in newborns with a family history.Conclusion Implementing integrated newborn hearing and genetic screening for hearing loss in ethnic minority areas of Changde City facilitates the understanding of genetic carrier characteristics within these communities.Analyzing the influence of ethnic and other demographic factors allows for the implementation of targeted screening protocols tailored to diverse populations.This serves as a foundation for refining screening models and ultimately reducing the prevalence of congenital hearing loss.

关 键 词：新生儿 少数民族 耳聋基因筛查 听力筛查 家族史 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]