Screeing Using SNPscan Method for GJB2 Gene Mutation among Non-syndromic Deaf Patients of the Dominant Ethnic Minorities in Xinjiang
10.3969/j.issn.1006-7299.2014.06.005
- VernacularTitle:SNPscan 法用于新疆主要少数民族非综合征型聋患者 GJB2基因突变筛查的研究
- Author:
Xingjian CHEN
;
Baicheng XU
;
Chi CHEN
;
Yiming ZHU
;
Xiaowen LIU
;
Xiaoiong YANG
;
Yanii WANG
;
Panpan BIAN
;
Yufen GUO
- Publication Type:Journal Article
- Keywords:
Nonsyalromic hearing loss;
Gap junction protein bate-2(GJB2);
Xinjiang;
Ethnici Minor-ity;
Mutation;
Single nucleotide polymorphism(SNP)
- From:
Journal of Audiology and Speech Pathology
2014;(6):577-581
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the prevalence and characteristics of GJB2 mutations in Uygur,Hui, Kazak and Kirgiz ethnic patients with non-syndromic hearing loss(NSHL)from the Xinjiang Uygur Autonomous Region of China.Methods With the permission,we collected 565 patients with moderately severe to profound sen-sorineural hearing loss,including Uygur,Hui,Kazak and Kirgiz ethnic minorities from 14 cities of Xinjiang.Pe-ripheral blood samples were obtained to extract genomic DNA.The SNP classification technology was for common pathogenic GJB2 gene mutations.ResuIts The pathogenic allele frequency of GJB2 gene were 10.16%(87/856 ), 15.85%(13/82),10.16%(13/128),1.56%(1/64)in the NSHL patients of Uygur,Hui,Kazak and Kirgiz minori-ties,respectively.And these differences were statistically significant (χ2 =8.140,P=0.043).c.235delc was only found in the Uygur and Hui with the allele frequency of 5.14 %(44/856)and 13.41 %(11/82),respectively.And c.35delG was found in Uyhur,Hui,Kazak and Kirgiz with allele frequencies were 3.15% (27/856),1.21% (1/82),8.59%(11/128)and 1.56% (1/64),respectively.ConcIusion GJB2 gene mutations had a higher incidence in Xinjiang NSHL patients,GJB2 gene mutation spectrum had differences in Uygur,Hui,Kazak and Kirgiz,c. 235delC the hotspot mutation region in Uygur and Hui nationalities NSHL patients,while c.35delG is the hotspot mutation region in NSHL patients of Uygur,Kazak and Kirgiz ethnicities.
