先天性内耳畸形与GJB2基因相关性分析  

Analysis on correlation between GJB2 mutations and congenitalmalformations of inner ear

作　　者：李幼瑾[1] 杨军[2] 杨涛[2] 柴永川[2] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心耳鼻咽喉科,上海200127 [2]上海交通大学医学院附属新华医院耳鼻咽喉头颈外科上海交通大学医学院耳科学研究所

出　　处：《临床耳鼻咽喉头颈外科杂志》2013年第16期881-883,889,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：上海市科委医学引导项目(No:114119a6300)

摘　　要：目的:分析婴幼儿、儿童先天性感音神经性聋(SNHL)中先天性内耳畸形患儿的GJB2基因突变发生的概率,突变类型以及基因突变与各种内耳畸形之间的关系。方法:收集先天性内耳畸形患儿77例及对照组1(无内耳畸形的先天性SNHL)80例、对照组2(听力正常人群)100例的外周血。提取基因组DNA,聚合酶链反应扩增GJB2,直接测序分析突变。结果:77例样本中,发现GJB2基因突变12例,多态34例,正常31例。GJB2基因突变中发现c.235delC纯合突变1例,c.235delC单杂合突变4例,p.V37I杂合7例,其中合并p.R184Q(显性遗传)单杂合突变1例。对照组1中发现GJB2基因突变29例,多态34例,正常17例。对照组2中发现GJB2基因突变12例,多态70例,正常18例。内耳畸形患儿与对照组1的GJB2等位基因突变频率差异有统计学意义(P<0.01);内耳畸形患儿与对照组2的GJB2等位基因突变频率差异无统计学意义(P>0.05)。结论:GJB2基因突变与内耳畸形无相关性,但与无内耳畸形的先天性SNHL有显著相关性。Objective：To analyze the correlation between GJB2 mutations and congenital malformations of in- ner ear in pediatric patients with sensorineural hearing loss（SNHL）. Method： Peripheral blood samples were col- lected from 77 pediatric patients with congenital malformations of inner ear. Two control groups were set up, which were control group 1 that contained 80 pediatric patients with congenital SNHL without inner ear malforma- tions, and control group 2 that contained 100 cases with normal hearing, retrospectively. Genomic DNA was ex- tracted from the blood; direct sequencing was used to detect GJB2 mutations. Result：GJB2 was normal in 31 pa- tients. GJB2 mutations were detected in 12 patients while the polymorphism of GJB2 was present in 34 patients. The homozygous mutations of 235delC was in 1 patient, the heterozygous carriers of 235delc in 4 patients, the heterozygous carriers of p. V37I in 7 patients in which the heterozygous carriers of p. R184Q with autosamal domi- nant hereditry in 1 patients. In control group 1, normal GJB2 was detected in 17 patients, GJB2 mutation in 29 patients, polymorphism in 34 patients. In control group 2, normal GJB2 was detected in 18 patients, GJB2 muta- tion in 12 patients, polymorphism in 70 patients. When the distribution of GJB2 genotypes was compared with phenotypes, significant difference was found（P〈0.01） between inner ear malformations and control group 1, but was not（P〉0.05） between inner ear malformations and control group 2. Conclusion：GJB2 Mutations are not cor- related with congenital inner ear malformations. However, GJB2 Mutations are correlated with congenital SNHL that is not caused by congenital malformations of inner ear.

关 键 词：遗传性疾病 先天性 听觉丧失 感音神经性 畸形 儿童 基因 突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]