海南省白沙黎族自治县新生儿耳聋基因横断面研究  

A Cross-sectional Study of Neonatal Deafness Genes in Baisha Li Autonomous County in Hainan Province

作　　者：赵振东 许海珠 ZHAO Zhendong;XU Haizhu(Newborn Disease Screening Center,Hainan Women and Children Medical Center,Haikou 570206,China)

机构地区：[1]海南省妇女儿童医学中心,新生儿疾病筛查中心,海口570206

出　　处：《中华耳科学杂志》2024年第3期420-424,共5页Chinese Journal of Otology

基　　金：海南省自然科学基金高层次人才项目(822RC856);海南省卫生健康行业科研项目(21A200009);海南省临床医学中心建设项目资助(琼卫医函[2021]75号)。

摘　　要：目的了解海南省白沙黎族自治县(白沙县)新生儿耳聋基因携带情况及基因特征型。方法横断面选取2021年1月至2021年9月白沙县出生的新生儿626例,其中606例新生儿监护人同意参加本次研究,参与率96.8%(606/626)。使用荧光PCR熔解曲线法对新生儿干血斑样本进行中国人常见的耳聋基因位点筛查。根据《遗传性耳聋基因筛查规范》对基因筛查阳性及提示有未知突变的样本进行Sanger测序验证。结果606例新生儿中检出26例有耳聋基因位点突变,携带率4.3%(26/606),男性携带率与女性比较,差异无统计学意义(P>0.05)。358例黎族新生儿中检出13例耳聋基因突变,248例其他民族样本中检出13例耳聋基因突变,黎族耳聋基因携带率与其他民族比较,差异无统计学意义(P>0.05)。4个耳聋基因中检出8种突变位点:c.235delC、c.919-2A>G、c.1229C>T、c.547G>A、c.1174A>T、c.229-300del、c.2618A>G和c.538C>T。c.235C>T和m.1508C>T未涵盖试剂盒位点的突变。结论白沙县新生儿人群中耳聋基因携带率较高,以GJB2基因的c.235delC和SLC26A4基因的c.919-2A>G位点突变常见,政府部门应在白沙县尽早开展新生儿耳聋基因筛查,以保证出生人口生活质量。Objective To report distribution of deafness genes and genotype among newborns in Baisha Li Autonomous County,Hainan Province,in order to provide data support for the government to formulate appropriate deafness prevention and control policies.Methods In this study,626 newborns born in Baisha County from January to September 2021 were recruited.Among them,guardians of 606 newborn(96.8%)agreed to participate in this study.The common genetic locus of deafness among the Chinese population was screened by the fluorescence PCR melting curve method using dry blood spot samples.According to"Genetic Screening Criteria for Hereditary deafness",samples positive in gene screening with unknown mutations were verified by sanger sequencing.Results Genetic locus mutations were identified in 26 cases(4.3%)with no gender difference(P>0.05),Of the 26 cases,13 were of Li ethnicity(n=358)and13 were from other ethnicity groups(n=248)(P>0.05).In this study,8 mutations in 4 deafness genes were detected,i.e.c.235delC,c.919-2A>G,c.1229C>T,c.547G>A,c.1174A>T,c.229-300del,c.2618A>G and c.538C>T.Two mutations identified in this study(c.235C>T and m.1508C>T)were not part of the test kit.Conclusion The rate of deafness gene carriers among newborns in Baisha County is high,with c.235delC of the GJB2 gene and c.919-2A>G of the SLC26A4 gene being most common.The local government should make newborn deafness screening in Baisha County available as soon as possible to ensure the quality of life of the population.

关 键 词：新生儿 干血斑 聋 基因 白沙县 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]