上海市长宁区新生儿常见遗传性耳聋基因筛查分析

王兰; 王芳; 汪洁云; 王洁

doi:10.19428/j.cnki.sjpm.2021.19519

上海市长宁区新生儿常见遗传性耳聋基因筛查分析

Screening of mutations of common deafness-related genes in neonates in Changning District, Shanghai

摘要

摘要:
目的了解上海市长宁区新生儿常见遗传性耳聋基因携带情况，探讨耳聋基因筛查联合听力筛查的临床意义。
方法用芯片基因筛查技术对2 006例新生儿进行基因常见位点的检测：GJB2(c.35delG、c.176del16、c.235delC、c.299delAT)、SLC26A4(c.IVS7-2A > G、c.2168A > G、c.1174A > T、c.1226G > A、c.1229C > T、c.IVS15+5G > A、c.1975G > C、c.2027T > A)、线粒体DNA 12S rRNA(m.1555A > G、m.1494C > T)、GJB3(c.538C > T); 按照《上海市新生儿听力筛查规范》对2 006例新生儿行听力筛查。
结果2 006例新生儿中90例基因筛查检测结果阳性，携带率4.49%，其中GJB2单杂合突变40例，携带率1.99%;SLC26A4单杂合突变38例，携带率1.89%;12S rRNA均质突变4例，携带率0.20%;GJB3单杂合突变6例，携带率0.30%。另有双杂合突变2例。11例研究对象未通过听力筛查，包括基因检测阳性1例。
结论上海长宁区新生儿常见耳聋相关基因有一定的携带率，以GJB2、SLC26A4单杂合突变常见。联合开展新生儿常见耳聋相关基因及听力筛查对提高地区人口健康素质及在听力残疾的三级防控方面具有一定积极的意义。

Abstract:
ObjectiveTo determine the mutations of common deafness-related genes and explore the clinical significance of universal screening in neonates in Changning District of Shanghai.
MethodsMicroarray gene screening was used to detect the following common mutation sites, including GJB2(c.35delG, c.176 del16, c.235delC, c.299 delAT); SLC26A4(c.IVS7-2A > G, c.2168A > G, c.1174A > T, c.1226G > A, c.1229C > T, c.IVS15+5G > A, c.1975G > C, c.2027T > A); mitochondrial DNA 12S rRNA(m.1555A > G; m.1494C > T)and GJB3(c.538C > T). In addition, hearing screening was conducted.
ResultsIn a total of 2 006 neonates, 90 cases(4.49%)had the mutations, including 40(1.99%)carrying a GJB2 single heterozygous mutation, 38(1.89%)carrying a SLC26A4 single heterozygous mutation, 4(0.20%)carrying a mitochondrial 12S rRNA homogeneous mutation, and 6(0.30%)carrying a GJB3 single heterozygous mutation. There were two double heterozygous mutations. In addition, 11 cases failed in the hearing screening.
ConclusionThere are mutations of deafness-related genes in neonates in Changning District of Shanghai, in which GJB2 and SLC26A4 are common. It remains crucial to combine screening of common deafness-related genes and hearing test in neonates for improving the health quality. Moreover, it is significant in preventing and controlling the hearing disability in three levels.

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