Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
Journal of Genetic Medicine
; : 63-68, 2014.
Article
在 En
| WPRIM
| ID: wpr-83557
Responsible library:
WPRO
ABSTRACT
PURPOSE:
The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal recessive nonsyndromic hearing loss associated with enlarged vestibular aqueduct and Pendred syndrome. Although most studies of SLC26A4 mutations have dealt with hearing-impaired patients, there are a few reports on the frequency of these mutations in the general population. The purpose of this study was to evaluate the prevalence of SLC26A4 mutations that cause inherited deafness in the general Korean population. MATERIALS ANDMETHODS:
We obtained blood samples from 144 Korean individuals with normal hearing. The samples were subjected to polymerase chain reaction to amplify the entire coding region of the SLC26A4 gene, followed by direct DNA sequencing.RESULTS:
Sequencing analysis of this gene identified 5 different variants (c.147C>G, c.225G>C, c.1723A>G, c.2168A>G, and c.2283A>G). The pathogenic mutation c.2168A>G (p.H723R) was identified in 1.39% (2/144) of the subjects with normal hearing.CONCLUSION:
These data provide information about carrier frequency for SLC26A4 mutation-associated hearing loss and have important implications for genetic diagnostic testing for inherited deafness in the Korean population.Key words
全文:
1
索引:
WPRIM
主要主题:
Vestibular Aqueduct
/
Polymerase Chain Reaction
/
Prevalence
/
Sequence Analysis, DNA
/
Deafness
/
Diagnostic Tests, Routine
/
Clinical Coding
/
Hearing
/
Hearing Loss
研究类型:
Prevalence_studies
限制:
Humans
语言:
En
期刊:
Journal of Genetic Medicine
年:
2014
类型:
Article