SLC26A4基因新发突变导致前庭水管扩大的分析与研究
Analysis and investigation of novel mutations in the SLC26A4 gene causing enlarged vestibular aqueduct
王政 1陈丁莉 2宋学东 2张小芳 2杨骁 2王峥 2江子月 1梁星宇 2李守霞2
作者信息
- 1. 河北北方学院,河北张家口 075000;邯郸市中心医院检验科,河北邯郸 056001
- 2. 邯郸市中心医院检验科,河北邯郸 056001
- 折叠
摘要
目的 研究河北邯郸地区耳聋患者SLC26A4基因突变情况,并对患儿进行分子遗传学研究,探寻致病原因.方法 采集邯郸市特殊教育学校75例和邯郸学院94例耳聋患者静脉血液样本,通过聚合酶链反应(PCR),其扩增产物行Sanger直接测序法进行测序.结果 在169例耳聋患者中,SLC26A4基因突变患者有27例(15.98％),复合杂合突变18例(10.65％),纯合突变9例(5.33％).同时还发现了 4个新发突变位点,分别为c.197A＞C(p.K66T)、c.688C＞A(p.Q230K)、c.712delA(p.Ile238Leufs*51)和 c.1649T＞G(p.F550C),其中 1 例前庭水管扩大患儿为 c.919-2A＞G和c.712delA复合杂合突变,c.919-2A＞G为致病突变,而c.712delA为疑似致病突变,推测复合杂合突变c.919-2A＞G和c.712delA为致聋原因.结论 SLC26A4为河北邯郸地区常见的耳聋致病基因,同时c.919-2A＞G和c.2168A＞G为最常见的突变位点,通过Sanger测序发现SLC26A4基因新发突变c.712delA为一患儿致聋原因.
Abstract
Objective The study aims to investigate SLC26A4 gene mutations in adolescent deaf patients in Handan,Hebei Province,China.It also focuses on exploring the molecular genetics of a child with enlarged vestibular aqueduct to understand the underlying causes of this condition.Methods Blood samples were obtained from 75 individuals from Handan Special Education School and 94 individuals from Handan University who had non-syndromic deafness.The 20 exons of the SLC26A4 gene were amplified using polymerase chain reaction(PCR),and the resulting PCR products were subjected to Sanger direct sequencing.Results Among the 169 adolescent deaf patients,27(15.98％)patients had mutations in the SLC26A4 gene.This included 18(10.65％)patients with compound heterozygous mutation deafness and 9(5.33％)patients with the homozygous mutation.In addition,four new mutation sites were identified:c.197A＞C(p.K66T),c.688C＞A(p.Q230K),c.712delA(p.Ile238Leufs*51),and c.1649T＞G(p.F550C).A compound heterozygous mutation of c.919-2A＞G and c.712delA was identified in one of the children with an enlarged vestibular aqueduct.c.919-2A＞G was confirmed to be a pathogenic mutation site,while c.712delA was suspected to be a pathogenic mutation site.Based on this evidence,it is speculated that the compound heterozygous mutations of c.919-2A＞G and c.712delA are the underlying causes of deafness in this case.Conclusion SLC26A4 is indeed a commonly implicated gene in deafness cases in the Handan region.The mutations c.919-2A＞G and c.2168A＞G have been identified as the most frequent mutation sites associated with this gene.Interestingly,during Sanger sequencing,a novel mutation c.712delA in the SLC26A4 gene was found to be the cause of deafness in a child.
关键词
非综合征性耳聋/Sanger测序/SLC26A4/基因突变Key words
non-syndromic deafness/Sanger direct sequencing/SLC26A4/genetic variation引用本文复制引用
基金项目
河北省医学科学研究项目(20191832)
出版年
2024
NETL
NSTL
万方数据