Prevalence Study of GJB2,SLC26A4 and mtDNA 12S rRNA1555A>G Mutations in Hui Ethnic Group Patients with Non-Syndromic Hearing Loss from Northwest China
10.3969/j.issn.1006-7299.2013.05.004
- VernacularTitle:中国西北地区回族非综合征型聋患者耳聋相关基因研究
- Author:
Jianli MA
;
Baicheng XU
;
Panpan BIAN
;
Xiaolong YANG
;
Xiaowen LIU
;
Qian LI
;
Yiming ZHU
;
Liang ZONG
;
Yali ZHAO
;
Yufen GUO
- Publication Type:Journal Article
- Keywords:
Hui ethnic group;
Non-syndromic hearing loss(NSHL);
mt .DNA 12SrRNA1555A>G;
GJB2;
SLC26A4;
Gene mutation
- From:
Journal of Audiology and Speech Pathology
2013;(5):451-455
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the prevalence of GJB2 ,SLC26A4 and mitochondrial DNA 12S rRNA m .1555A>G(mtDNA 1555A>G) mutations in Hui ethic group patients with nonsyndromic hearing loss (NSHL) from Northwest China .Methods A total of 420 peripheral blood samples were collected from unrelated Hui ethic group probands with NSHL in Northwest China .Amplified the target gene by polymerase chain reaction (PCR) af-ter extracting genomic DNA from whole blood .The mtDNA 1555A>G mutation was detected by PCR -Alw26I di-gestion ,then direct sequencing was used to the positive samples of mtDNA 1555A> G ,the coding region of GJB2 gene ,exon 8 and 19 of SLC26A4 gene .Results There were 11(2 .62% ) cases caused by mtDNA 1555A>G homo-zygous mutation in 420 patients with NSHL .There were 41(9 .76% ) cases including homozygote and compound het-erozygote ,caused by GJB2 gene mutation ,which was the most frequent deafness -related gene .The allel frequency of c .235delC accounted for 6 .90% ,as well as the most frequent(51 .33% ) mutational pattern in GJB2 gene .There were 20 patients(4 .76% ) were found carring two allel mutations in SLC26A4 gene .The allel frequency of c .919 -2A>G was 5 .0% ,accounting for a total of 68 .85% in all base alterations of SLC26A4 gene ,which was the major mutant form of SLC26A4 gene .Conclusion GJB2 gene is the most common deafness -gene in Hui ethnic group pa-tients with NSHL from Northwest China ,while c .235delC is the main mutant form ,and c .919-2A>G is the hot-spot mutation of SLC26A4 gene .Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis ,genetic counseling and therapy by associated testing of three frequent hearing loss genes .
