中国人GJB2耳聋基因突变分析  

Analysis on mutations of GJB2 gene in Chinese population

作　　者：李建瑞[1] 陈瑛[1] 郭皖北 李玲香[3] 李如青[3] 

机构地区：[1]山东大学齐鲁医院耳鼻喉科,济南内蒙古医学院附属医院250012 [2]湖南省郴州医学专科学校附属医院- [3]内蒙古医学院附属医院

出　　处：《中华医学遗传学杂志》2003年第5期441-443,共3页Chinese Journal of Medical Genetics

基　　金：中国留学基金委出国留学人员基金;内蒙古自然科学基金 ( 2 0 0 1 30 6)

摘　　要：目的　确定常染色体隐性遗传性聋 GJB2基因突变的类型和频率 ,从分子水平探讨发病机理。方法　收集中国人常染色体隐性遗传性聋 4个家系 (3 9名个体 )和健康对照组 50人的外周血 DNA样本。PCR扩增 GJB2基因片段 ,行 Apa 酶切和序列分析。结果　检出 2个家系 4例患者 GJB2基因2 3 5del C纯合性缺失 ,导致移码突变 ,2例患者为 2 3 5del C和 2 3 2 G→ A(Ala78Thr)双重杂合性突变。正常对照组中发现 1例 2 3 5del C携带者。耳聋患者组和健康对照组中均存在 79G→ A(V2 7I) ,3 4 1A→ G(E114 G)两种改变。在对照组中这两种改变的等位基因频率分别为 3 0 %、2 1%。结论　两个家系与 GJB2基因2 3 5del C有关 ,2 3 2 G→ A是 1个新的突变。Objective: To determine the prevalence and types of GJB2 mutations and to investigate the genetic mechanism in Chinese autosomal recessive deafness. Methods: The subjects were four Chinese pedigrees (39 individuals) and 50 normal adults. GJB2 was amplified by PCR. The products were digested with restriction enzyme Apa I, then sequenced. Results: Homozygous deletion C at position 232-235 of GJB2 (235delC), which resulted in frameshift mutation, was found in four affected individuals of two pedigrees; the compound heterozygous deletions (235delC/232G &rarr A) were found in two affected individuals in one pedigree. One carrier with 235delc was found in normal controls (1% allele). Two kinds of polymorphisms 79G&rarrA(V27I) and 341A&rarrG(E114G) were found in both affected and normal controls. The frequencies of allele for 79G&rarrA and 341A&rarrG in normal controls were 30%, 21%, respectively. Conclusion: 235delC mutation of GJB2 was related with Chinese autosomal recessive deafness, and the 232G&rarrA(Ala78Thr) missense mutation was found to be a novel mutation.

关 键 词：中国人 耳聋 基因突变 GJB2 染色体 

分 类 号：R764[医药卫生—耳鼻咽喉科]