新疆地区941例新生儿聋病基因GJB2、SLC26A4、线粒体DNA 12S rRNA筛查分析

目的通过对新生儿进行聋病易感基因和听力筛查，探讨聋病易感基因筛查应用于新生儿筛查的必要性，为制订防聋治聋策略提供依据。方法以941例新生儿作为研究对象，所有新生儿出生时采脐带血,采用限制性内切酶酶切结合直接测序的方法对3种国人常见耳聋易感基因（线粒体DNA 12S rRNA、GJB2、SLC26A4）突变热点进行筛查,运用SPSS 13.0软件对结果进行统计分析。结果3种基因热点突变的总携带率为2.02%（19/941），GJB2基因235delC杂合突变9例（0.96%），SLC26A4基因IVS7-2A〉G杂合突变9例（0.96%）,线粒体DNA 12S rRNA A1555G突变3例（0.32%），其中2例为复合突变（235delC杂合突变/IVS7-2A〉G杂合突变、1555A〉G均质突变/235delC杂合突变）。GJB2基因235delC杂合突变在维吾尔族和汉族新生儿中的携带率分别为0.36％（1/276）、1.19％（7/586）；SLC26A4基因IVS7-2A〉G杂合突变在维吾尔族和汉族新生儿中的携带率分别为0.36％（1/276）、1.37％（8/586）；线粒体DNA 12S rRNA 1555A〉G突变在维吾尔族和汉族新生儿中的携带率分别为0.72％（2/276）、0％。在维吾尔族和汉族新生儿中，以上三基因突变携带率不同，但没有统计学差异。结论聋病易感基因筛查应用于维、汉族新生儿筛查必要且可行。

An Analysis of the Screening Results of GJB2, SLC26A4 and mtDNA 12S rRNA Genes in Uyghur and Han Newborns

Objective To explore the necessity of the application of deafness-related gene tests to newborn screening and to provide reference for the development of strategies on the prevention and treatment of hearing loss. Methods The umbilical cord blood was collected from 941 newborns to receive the restriction fragment length polymorphism （RFLP） and direct sequencing test. The three common deafness-related genes （GJB2, SLC26A4 and mtDNA 12S rRNA） were screened and the results were analyzed with SPSS 13.0 software. Results Of the 941 newborns,19 carried the gene mutations（2.02%）,including 9 cases with GJB2 235delC heterozygous mutation, 9 cases with SLC26A4 IVS7-2A〉G heterozygous mutation and 3 cases with mtDNA 12S rRNA A1555G mutation. There were 2 cases with compound mutations （1 case with 235delC heterozygous mutation/ IVS7-2A〉G heterozygous mutation and 1 case with 1555A〉G homoplasmic mutation/235delC heterozygous mutation）.The carrier rates of 235delC heterozygous mutation in Uyghur and Han newborns were 0.36%（1/276）and 1.19%（7/586）,respectively. The carrier rates of SLC26A4 IVS7-2A〉G heterozygous mutation in Uyghur and Han newborns were 0.36%（1/276） and 1.37%（8/586）,respectively. The carrier rates of mtDNA 12S rRNA 1555A〉G mutation in Uyghur and Han newborns were 0.72% （2/276）and 0%,respectively. There was no significant difference in the carrier rates of the three mutations between Uyghur and Han newborns. Conclusion It is necessary and feasible to apply deafness-related gene tests to newborn screening.