一个非综合征型耳聋家系的分子病因学分析  

Mutation analysis of GJB2 and SLC26A4 gene in a Chinese family with nonsyndromic hearing loss

作　　者：潘玉纯 李思秀 康涵 王凌晞 谢雅梅 谢成秀 PAN Yuchun;LI Sixiu;KANG Han;WANG Lingxi;XIE Yamei;XIE Chengxiu(Department of Prenatal Diagnosis,Chengdu Women and Children's Central Hospital,School of Medicine,University of Electronic Science and Technology,Chengdu,Sichuan 611731,China;Department of Neurology,Chengdu Women and Childrens Central Hospital,School of Medicine,University of Electronic Science and Technology,Chengdu,Sichuan 611731,China)

机构地区：[1]电子科技大学医学院附属妇女儿童医院/成都市妇女儿童中心医院产前诊断科,四川成都611731 [2]电子科技大学医学院附属妇女儿童医院/成都市妇女儿童中心医院神经内科,四川成都611731

出　　处：《中国优生与遗传杂志》2022年第1期118-121,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析一非综合征型耳聋家系的分子病因,为患病家系遗传咨询和产前诊断提供依据。方法采用聚合酶链反应(polymerase chain reaction,PCR)和Sanger测序法对4名耳聋患者进行GJB2和SLC26A4基因编码区及侧翼序列测序。结果先证者GJB2基因序列测定为野生型,检出SLC26A4基因c.240delC和c.2168A>G复合杂合突变。先证者父亲检出SLC26A4基因c.240delC杂合突变,先证者母亲检出SLC26A4基因c.563T>C、c.1746delG和c.2168A>G三个杂合突变,先证者妹妹检出SLC26A4基因c.240delC、c.563T>C和c.1746delG三个杂合突变。其中,SLC26A4c.240delC为未见报道的新发框移突变,其余三个突变均为文献已报道的致病突变。结论该家系先证者、先证者母亲及先证者妹妹均为SLC26A4基因复合杂合突变导致的非综合征型耳聋,先证者父亲仅检出单杂合突变。明确基因突变有助于该家系进行遗传咨询和婚育指导,避免聋儿出生。Objective To analyze the molecular etiology of a Chinese family with nonsyndromic hearing loss(NSHL),and provides the basis for genetic counseling and prenatal diagnosis.Methods The exons and the flanking region of GJB2 and SLC26 A4 were tested in all family members by polymerase chain reaction and the Sanger sequencing.Results The proband GJB2 sequencing was a wild type,and then found the compound heterozygous mutations of SLC26A4 c.240 delC and c.2168A>G.Heterozygous mutations of SLC26A4 c.240 delC was detected by the proband’s father,Heterozygous mutations of SLC26A4 c.563T>C,c.1746 delG and c.2168A>G were detected by the proband’s mother.Heterozygous mutations of SLC26A4 c.240 delC,c.563T>C and c.1746 delG were detected by the proband’s sisiter.c.240 delC is de novo mutation and the rest were identified.Conclusion Identification of gene mutation helps to avoid the deaf children born.

关 键 词：非综合征型耳聋 SLC26A4基因 Sanger测序 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]