Study the Mutation Screening of GJB3,GJB2,mtDNA,SLC26A4 Gene in Hainan Population with Non-syndromic Hearing Impairment
10.3969/j.issn.1671-7414.2014.05.005
- VernacularTitle:海南地区非综合征遗传性耳聋四个常见基因突变的分析
- Author:
Xinping CHEN
;
Zheng FU
;
Shengmiao FU
;
Weihua XU
;
Jie LIN
;
Zhibin ZHAO
- Publication Type:Journal Article
- Keywords:
hereditary hearing loss;
GJB2;
SLC26A4;
GJB3;
mitochondrial DNA;
mutation
- From:
Journal of Modern Laboratory Medicine
2014;(5):34-37
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the mutation screening of the GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene in Hainan Pronive population with non-syndromic hearing impairment.Methods PCR were performed with one pair of primer in the coding sequence of GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene.Bidirectional sequencing of PCR products was subsequently applied in 429 patients with hearing loss.Results 55 patients gene mutation of 429 patients were found. The point mutation in mtDNA was found in 5 patients (1.1 7%).1 5 5 5 A>G mutation of mtDNA was found in 4 patients. 1494 C>T mutation of mtDNA was found in one patients.GJB2 gene mutation was found in 25 patients (5.83%).235 del C mutation of GJB2 gene was found in 9 patients.235 del C/GJB2 299 del AT mutation was found in two patients.235 del C mutation was found in 10 patients.176 del 16 mutation was found in 4 patients.SLC26A4 mutation was found in 22 patients (5.13%).IVS7-2 A>G mutation of SLC26A4 was found in 4 patients.2168 A>G mutation of SLC26A4 was found in one patient.IVS7-2 A>G mutation was found in 12 patients.2168 A>G mutation was found in 5 patients.538 C>T mutation of GJB3 gene was found in 3 patient.IVS7-2A>G mutation and 2168 A>G muation of SLC26A4 gene was found in 4 of 22 EVA patients.Conclusion GJB2 gene and SLC26A4 gene have revealed responsible genes for Hainan deafness patients.
