915例新生儿GJB2基因筛查单杂合突变测序结果分析  

The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing

作　　者：崔庆佳[1] 黄丽辉[2] 阮宇[2] 杜延顺[2] 赵丽萍[2] 杨军[2] 张伟 

机构地区：[1]首都医科大学附属北京康复医院耳鼻咽喉科,北京100144 [2]首都医科大学附属北京同仁医院北京市耳鼻咽喉科研究所耳鼻咽喉头颈外科学教育部重点实验室(首都医科大学)

出　　处：《临床耳鼻咽喉头颈外科杂志》2015年第13期1164-1167,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：卫生公益性行业科研专项基金(No:201202005);首都临床特色应用研究专项基金(No:Z131107002213123)

摘　　要：目的:明确北京地区GJB2基因筛查单杂合新生儿携带其他突变位点的情况,预估GJB2基因单杂合新生儿发生遗传性聋的风险。方法:研究对象采用晶芯?九项耳聋基因芯片筛查(GJB2c.235delC、GJB2c.299_300delAT、GJB2c.176_191del16、GJB2c.35delG),且为GJB2基因单杂合突变的915例新生儿,对其血样进行GJB2全基因测序,寻找该基因其他突变位点,结合国内外最新文献,将突变类型分为3类:明确致病、尚未明确致病和常见多态,分析和预估915例GJB2基因单杂合突变新生儿发生遗传性聋的概率。结果:915例GJB2单杂合突变新生儿中,携带其他突变位点400例(43.72%,400/915),未携带其他突变515例(56.28%,515/915)。其中,携带3种明确致病突变类型(c.94C>T、c.380G>T、c.344T>G)3例(0.33%,3/915);携带14种尚未明确致病突变位点62例(6.76%,62/915),其中争议位点c.109G>A 36例(58.06%,36/62),c.368C>A13例(20.97%,13/62),其他位点13例(20.97%);携带6种明确多态突变类型335例(36.61%,335/915)。该研究6个新发突变位点(c.268C>G、c.282C>T、c.294G>C、456C>T、c.501G>A、c.587T>C)共7例(0.77%,7/915)。结论:北京地区GJB2基因筛查单杂合突变新生儿中,同时携带其他突变位点的概率较高,预估发生遗传性聋的风险为0.33%。携带争议位点c.109G>A、c.368C>A人群尤其值得临床关注,新发突变位点丰富了中国人群GJB2基因突变的图谱。Objective：To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.Method：We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening（GJB2c.235 delC,GJB2c.299_300delAT,GJB2 c.176_191del16,GJB2 c.35delG）in Beijing Tongren hospital,and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.Result：Four hundred（43.72%,400/915）newborn were detected to carry at least one mutation allele in GJB2.3（0.33%,3/915）newborn had pathogenic mutations（c.94〉CT,c.380〉GT,c.344T〉G）;62（6.76%,62/915）newborn carried 14 undefined variant,36 newborn had c.109G〉A（58.06%,36/62）,13 newborn had c.368C〉A（20.97%,13/62）,six（c.268C〉G,c.282C〉T,c.294G〉C,456C〉T,c.501G〉A,c.587T〉C）are novel;335（36.61%,335/915）newborn were polymorphism.Conclusion：The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing.It is noteworthy that c.109G〉A,c.368C〉A occupy a high proportion.

关 键 词：GJB2基因 测序 突变频率 致病性 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]