海南省黎族新生儿耳聋基因筛查分析

Genetic Screening in Ethnic Li Neonates in Hainan Province

目的了解中国黎族人群耳聋基因的携带情况和特征,为政府决策部门拟定适宜的耳聋防控政策提供数据依据。方法横断面选取海南省黎族自治市/县2021年1月—6月出生的1997例黎族新生儿为研究对象,利用新生儿足跟血干血斑为样本,使用荧光PCR熔解曲线法进行中国人常见的26个耳聋基因位点筛查。根据中国《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测序验证。结果黎族新生儿耳聋基因携带率为30.4%(607/1997)。男性耳聋基因携带率为30.5%(300/983),女性携带率为30.3%(307/1014),男女耳聋基因携带率比较,差异无统计学意义(χ^(2)=0.014,P=0.906)。遗传性耳聋基因突变检出率为GJB2基因27.2%(544/1997),SLC26A4基因2.3%(46/1997),12S rRNA基因0.1%(2/1997)。并发现4种试剂盒未涵盖的突变位点,GJB2基因的c.235C>T、c.79G>A和SLC26A4基因的c.1983C>A、c.1001+131G>T。结论海南省黎族新生儿耳聋基因携带率高,以c.109G>A(25.3%)、c.1983C>A(1.8%)和c.235delC(1.1%)为突变热点。作为新生儿听力筛查的有效补充,有必要在海南省黎族自治市/县尽早开展新生儿耳聋基因检测,以保证出生人口生活质量。

Objective To understand characteristics of deafness genes among the Li people and to provide data support for government decision-making on deafness prevention and management policies.Methods A cross-sectional study involving ethnic Li newborns from January 2021 to June 2021 in Hainan Province on a voluntary basis with informed consenting.Dried heel blood spots samples were collected,and the fluorescence PCR fusion curve was used to screen for 26 deafness gene loci commonly seen in China.According to the"Genetic Screening Standards for Hereditary Deafness",positive samples in screening and unknown mutations were sent for sequencing verification.Results The rate of deafness gene detection was 30.4%(607/1997)in this group of newborns,30.5%(300/983)in males and 30.3%(307/1014)in females(χ^(2)=0.014,P=0.906).Common mutations involved the GJB2(27.2%,544/1997),SLC26A4(2.3%,46/1997)and 12S rRNA(0.1%,2/1997)genes.Four mutations were not covered by the screening kit,i.e.c.235C>T and c.79G>A of the GJB2 gene,and c.1983C>A and c.1001+131G>T of the SLC26A4 gene.Conclusion The carrying rate of deafness genes is high among the Li people in Hainan Province,with c.109G>A,c.1983C>A and c.235delC being the mutation hotspots.Early neonatal deafness gene testing among the Li people in Hainan Province is an effective and important tool to ensure the quality of life among the Li population.