南宁市4679例新生儿突变耳聋基因筛查结果

Screening results of deafness gene mutations in 4679 newborns in Nanning

目的了解南宁市新生儿突变耳聋基因携带情况。方法选择在广西壮族自治区妇幼保健院出生3～5d的新生儿4 679例,采集其足跟末稍静脉血,提取DNA,采用基质辅助激光解吸电离飞行时间质谱技术检测GJB2、GJB3、SLC26A4、12SrRNA四个耳聋基因的20个突变位点。结果 4 679例新生儿中有143例检出四个耳聋基因的13种突变类型,突变耳聋基因携带率为3.056%。GJB2基因检出235del C、299_300del AT、176_191del16三种突变共76例,GJB3基因检出538C〉T、547G〉A两种突变5例,SLC26A4基因检出IVS7-2A〉G、1174A〉T、1229C〉T、1975G〉C、2027T〉A、2168A〉G、六种突变48例,12SrRNA基因检出1555A〉G突变14例。结论通过突变耳聋基因筛查可早期发现迟发性耳聋患儿,为人群听力障碍防控提供帮助。

Objective To understand the newborns ＇ carrying situation of the mutation of deafness-related genes in Nanning. Methods Samples of heel blood were collected from 4 679 newborns in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region who were born in 3-5 days. DNA samples were extracted and detected by Matrix-assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry（ MALDI-TOF-MS）,including 20 mutation sites of 4deafness-related genes（ GJB2, GJB3, SLC26A4 and 12SrRNA）. Results Among 4 679 newborns,143 cases（ 3. 056%） were detected with 13 mutation types,which included 76 cases of GJB2（ 235 del C,299_300del AT,176_191del16） gene mutation,5 cases of GJB3（ 538 C T,547 G 〉A） gene mutation,48 cases of SLC26A4（ IVS7-2A〉 G,1174 A 〉T,1229 C 〉T,1975 G〉 C,2027 T〉 A,2168 A〉 G） gene mutation and 14 cases of 12SrRNA（ 1555 A〉 G） gene mutation. Conclusion The mutation of deafness-related gene screening in neonates may be useful in early detection of delayed deafness and it helps for the prevention and control of hearing impairment.