2个非综合性耳聋家系GJB2基因和线粒体DNA 12S rRNA突变分析  

Analysis of the mutations of GJB2 gene and mitochondria DNA 12S rRNA in two pedigrees with nonsyndromic hearing loss

作　　者：范俊丽[1] 邱雪平[1] 李祖华[1] 黄伏生[1] 

机构地区：[1]武汉大学中南医院检验科,武汉430071

出　　处：《临床血液学杂志（输血与检验）》2015年第4期666-669,共4页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

基　　金：国家自然科学基金资助(No:81171669H2007)

摘　　要：目的:鉴定2个非综合性耳聋家系中与疾病相关的致病基因,以期对家系提供遗传咨询。方法:对2个常染色体隐性遗传非综合性耳聋家系进行听力学检查,病史采集,绘制家系图,提取受检者DNA,采用直接测序技术检测和筛查GJB2编码区、mtDNA 12SrRNA是否存在突变。结果:2个家系均符合常染色体隐性遗传非综合性耳聋,家系A患者3例,发现存在GJB2 235delC、299delAT突变,家系B患者1例,存在GJB2 235delC突变。结论:在2个家系中均发现GJB2突变,为中国人群常见突变。其中1例患者未检测到突变,应对其进行其余常见突变筛查,或外显子测序,以寻找致病基因。Objective：To identify the causative gene defects associated with non-syndromic hearing loss in two Chinese pedigrees and aid in genetic counseling for hearing loss patients.Method：Audiological examination and medical history collection was performed in the two pedigrees,the family tree was drawn and genomic DNA was isolated from peripheral blood.The mutation analysis of the GJB2 and mtDNA 12 SrRNA was conducted by direct polymerase chain reaction sequencing（PCR）.Result：The two pedigrees were characterized by Autosomal recessive inheritance,there were 3patients in pedigree A,and one in pedigree B.In pedigree A,we revealed that two heterozygous mutation 235 delC and 299 delAT in GJB2.In pedigree B,we identified a heterozygous mutation GJB2235 delC.Conclusion：We identified two known GJB2 mutation in the two pedigrees.But we didn＇t find any causative mutation of GJB2 and mtDNA 12 SrRNA in one affected individual.

关 键 词：非综合性耳聋 GJB2 突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]