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目的通过对绍兴地区7172例新生儿常见耳聋基因突变检测,了解绍兴地区新生儿常见耳聋基因的携带率及突变类型。方法应用基质辅助激光解吸电离飞行时间质谱技术对4个常见耳聋基因GJB2、SLC26A4、GJB3和线粒体12S r RNA的2O个热点突变进行检测。结果 7172例新生儿中检出突变389例,携带率5.42%。其中GJB2突变214例(2.98%),SLC26A4突变128例(1.78%),GJB3突变40例(0.56%),线粒体12S r RNA突变15例(0.21%)。位点突变频率前5位由高到低依次是GJB2 235del C 168例(2.33%)、SLC26A4 IVS7-2A>G 95例(1.32%)、GJB2 299-300del AT 33例(0.46%)、GJB3547G>A 24例(0.34%)、GJB3 538C>T 16例(0.22%)。结论常见耳聋基因在绍兴地区新生儿中有较高的阳性率,主要以GJB2、SLC26A4突变为主。
Objective To investigate the prevalence and mutation types of common deafness gene in newborns in Shaoxing through the detection of common deafness gene mutations in 7172 newborns in Shaoxing. Methods 20 hotspot mutations of four common deafness genes GJB2, SLC26A4, GJB3 and mitochondrial 12S rRNA were detected by matrix-assisted laser desorption / ionization time of flight mass spectrometry. Results A total of 3817 newborns were detected in 7172 newborns with a carriage rate of 5.42%. There were 214 cases (2.98%) of GJB2 mutation, 128 cases (1.78%) of SLC26A4 mutation, 40 cases (0.56%) of GJB3 mutation and 15 cases (0.21%) of mitochondrial 12S rRNA mutation. The top five mutations of GJB2 235del C were found in 168 cases (2.33%), SLC26A4 IVS7-2A> G (1.32%), GJB2 299-300del AT in 33 cases (0.46%), GJB3547G> A 24 cases (0.34%), GJB3 538C> T 16 cases (0.22%). Conclusion The common deafness gene has a high positive rate in neonates in Shaoxing, mainly GGB2 and SLC26A4 mutations.