海南省新生儿耳聋基因携带情况分析

目的 了解海南省新生儿4种常见耳聋基因及10个位点突变的检出情况,分析耳聋基因及其位点的分子流行病学特征,为海南省制定新生儿耳聋基因筛查策略,促进儿童听力健康水平提供科学依据。方法 选取2020年1月至2021年12月在海南出生的新生儿,收集研究对象的人口学特征,同时采集新生儿足底血,应用多重PCR扩增和导流杂交技术联合高通量测序技术,对常见的4个耳聋基因10个突变位点进行检测,采用t检验或χ²检验对数据进行处理。结果 7 124名新生儿通过知情同意并被列为研究对象,检测到耳聋基因突变219例,耳聋基因检出率为3.07%。4个常见耳聋基因GJB2、SLC26A4、MT-RNR1、GJB3的检出率分别为1.56%（111/7 124）、1.18%（84/7 124）、0.21%（15/7 124）、0.11%（8/7 124）。4个基因10个位点中,GJB2的c.235delC位点检出率最高,为1.38%（98/7 124）,其次是SLC26A4的c.919-2A>G（0.87%,62/7 124）;听力初筛通过的新生儿有2.63%（113/4 289）检出耳聋基因;在基因类型方面,GJB2基因在听力筛查未通过新生儿中检出率大于听力筛查通过的新生儿2.23%（63/7 124） vs 1.12%（48/7 124）,P<0.01];在基因位点方面,未通过听力筛查新生儿的c.235delC位点检出率大于通过的新生儿2.09%（59/7 124） vs 0.91%（39/7 124）,P<0.01]。结论 海南省新生儿最常见的耳聋基因类型为GJB2和SLC26A4;最常见的基因突变位点为c.235delC和c.919-2A>G;听力初筛通过的新生儿仍有2.63%检出耳聋基因,其中检出携带MT-RNR1和GJB3基因的耳聋高危新生儿。因此,听力筛查应联合耳聋基因筛查,以提高听力损失高危儿童检出率。

Analysis of genetic carrier of neonatal deafness in Hainan

Objective To explore the carrying status of four common deafness genes and mutations on 10 loci in newborns in Hainan, and to analyze the molecular epidemiological characteristics of deafness genes and their loci, so as to provide scientific basis for formulating neonatal deafness gene screening strategy and promoting children’s hearing health in Hainan. Methods Newborns born in Hainan from January 2020 to December 2021 were selected as the research objects. The demographic characteristics of the research objects were collected. At the same time, the plantar blood of newborns was collected, and multiplex PCR amplification and directed hybridization combined with high-throughput sequencing technology were applied to detect 10 mutation loci on 4 common deafness genes. T-test or chi square test was used to process the data. Results A total of 7 124 newborns were included in the study through informed consent, 219 cases of deafness gene mutation were detected with the detection rate of deafness gene of 3.07%. The detection rates of GJB2, SLC26A4, MT-RNR1 and GJB3 were 1.56% (111/7 124), 1.18% (84/7 124), 0.21% (15/7 124) and 0.11% (8/7 124) respectively. Among the 10 loci of the four genes, the positive detection rate of c.235delC locus of GJB2 was the highest, which was 1.38% (98/7 124), followed by c.919-2A>G of SLC26A4 (0.87%, 62/7 124); 2.63% (113/4 289) of the newborns who passed the preliminary hearing screening still carried the deafness gene; in terms of gene type, the detection rate of GJB2 gene in newborns who failed the hearing screening was higher than that in newborns who passed the hearing screening 2.23% (63/7 124) vs 1.12% (48/7 124),P<0.01]; in terms of gene loci, the detection rate of c.235delC locus in newborns who failed hearing screening was higher than that in newborns who passed hearing screening 2.09% (59/7 124) vs 0.91% (39/7 124),P<0.01]. Conclusion The most common deafness genes types in Hainan were GJB2 and SLC26A4; The most common gene mutation sites were c.235delC and c.919-2A>G; 2.63% of the newborns who passed the preliminary hearing screening still carried the deafness gene, among which the high-risk newborns with MT-RNR1 and GJB3 genes were found. Therefore, hearing screening should be combined with deafness gene screening to improve the detection rate of children at high risk of hearing loss.