The study on 235delC mutation of GJB2 gene in patients with idiopathic sudden hearing loss.
- Author:
Yue ZHAN
;
Yujuan HU
;
Xiang HUANG
;
Huamao CHEN
;
Changkai GUO
;
Hongjun XIAO
;
Hong SHI
;
Weijia KONG
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Aged;
Child;
Connexin 26;
Connexins;
genetics;
DNA Mutational Analysis;
Female;
Hearing Loss, Sudden;
genetics;
Humans;
Male;
Middle Aged;
Mutation;
Young Adult
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2014;28(9):621-634
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the rate of 235delC mutation in GJB2 gene in patients with idiopathic sudden hearing loss, and to explore its possible correlation with pathogenesis of idiopathic sudden hearing loss.
METHOD:Two hundred and thirty-four patients with diagnosis of idiopathic sudden hearing loss in otolaryngology department were recruited as experimental group. Eighty people with normal hearing level were enrolled as control group. Their peripheral blood samples were obtained and genomic DNA was extracted. Using polymerase chain reaction, the coding region of GJB2 gene was amplified, and 235delC mutation is screened for in GJB2 gene by restriction endonuclease. At same time the clinical data of 234 patients was collected to analyze.
RESULT:In 234 cases of idiopathic sudden hearing loss, 5 cases were found to have heterozygous 235delC mutation, none of them harbored homozygous 235delC mutation, the 235delC mutation rate was 2.1% (5/234). No 235delC mutation was found in control group. The rate of 235delC mutation in two group showed no statistically significant difference (P > 0.05).
CONCLUSION:This research shows that the rate of 235delC mutation in GJB2 is low in patients with idiopathic sudden hearing loss, and suggest that 235delC mutation possible has no correlation with idiopathic sudden hearing loss.
