部队新生儿常见遗传性耳聋基因筛查分析

目的 了解部队新生儿耳聋易感基因的携带率及突变类型,并分析部队新生儿与普通人群新生儿之间耳聋基因突变率及突变类型的差异.方法 应用遗传性耳聋基因芯片技术,对2014年11月至2016年11月北部战区所属部队官兵所生新生儿937例进行GJB2(c.35delG、c.235delC、c.176del16、c.299 del AT)、SLC26A4(IVS7-2A>G和c.2168 A>G)、GJB3(c.538C>T)、线粒体12S rRNA (m.1494 C>T和m.1555 A>G)4个常见耳聋易感基因9个突变热点检测.结果 937例新生儿中,耳聋基因突变31例(3.31%).其中GJB2 13例,突变携带率为1.39%(13/937),包括c.176del16 2例(0.21%),c.235delC 6例(0.64%),c.299 del AT 5例(0.53%),而c.35delG 0例;SLC26A4基因突变13例,突变携带率为1.39%(13/937),均为IVS 7-2 A>G位点;GJB3基因突变2例(0.21%),皆为单基因杂合突变,无纯合突变;线粒体12S rRNA1555 A>G均质突变3例(0.32%),无异质突变.结论 与普通人群相比,部队新生儿耳聋基因突变类型相同,但携带率处于偏低水平,可能与样本量少引起的偏差有关,也可能与军人身体素质优于普通人群有关.耳聋基因筛查有利于药物性和迟发性耳聋的早期发现,是耳聋出生缺陷三级预防的重点.

Screening analysis of genetic deafness gene in military neonates

Objective To study the carrier rate and mutation type of deafness susceptibility gene in military neonates and to analyze the difference in mutation rate and type of deafness gene between military and civilian neonates.Methods Nine mutational hotspots in 4 common deafness susceptibility genes including GJB2 (c.35delG, c.235delC, c.176del16, c.299 del AT), SLC26A4 (IVS7-2A>G and c.2168 A>G), GJB3 (c.538C>T), mitochondrial 12S rRNA (m.1494 C>T and m.1555 A>G) were detected in 937 neonates of officers and soldiers using gene chip technology.Results In 937 neonates, 31 cases had deafness gene mutations (3.31%) among which 13 cases had mutations of GJB2 with carrier rate of 1.39% (13/937), including c.176del16 in 2 cases (0.21%), c.235delC in 6 cases (0.64%), c.299 del AT in 5 cases (0.53%) and c.35delG in 0 case.There were 13 cases having mutation of SLC26A4 with carrier rate of 1.39% (13/937) and all were IVS 7-2 A>G.And 2 cases (0.21%) of heterozygous mutations of GJB3 were found.Homozygous mutations of mitochondrial 12S rRNA 1555 A>G were found in 3 cases (0.32%).Conclusion Comparing with civilian neonates, deafness gene mutation type is same but carrier rate is lower in military neonates, which may be attributed to small sample size or better physical quality of armyman.Genetic deafness gene screening is important for early discovery of drug induced deafness and delayed deafness, and it is the focus of tertiary prevention of birth defect deafness.