Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea
Clinical and Experimental Otorhinolaryngology
;
: 65-69, 2010.
Article
in English
| WPRIM
| ID: wpr-205389
ABSTRACT
OBJECTIVES:
Hearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI. This study was conducted to obtain a set of sequence variations (SVs) of the GJB2 gene among Koreans from the general population for making molecular genetic diagnoses and performing genetic counseling.METHODS:
We resequenced the GJB2 gene in 192 chromosomes from 96 adult individuals of Korean descent and who were without a history of hearing difficulty. The data of the SVs was obtained and the haplotypes were reconstructed from the data.RESULTS:
Five SVs were observed, including a novel one (c.558G>A; p.T186T), with the allele frequencies ranging from 0.5% (1/192) to 41% (79/192). The linkage disequilibrium study and haplotype construction showed that some of the SVs are in tight linkage, resulting in a limited number of haplotypes.CONCLUSION:
We observed SVs of the GJB2 gene with different allele frequencies, and a limited number of haplotypes were constructed. The data from this study can be used as reference data for GJB2-related hearing genetic studies, including studies on the founder effect and population genetics, and this data is particularly relevant to people of East Asian decent.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Haplotypes
/
Linkage Disequilibrium
/
Connexins
/
Founder Effect
/
Asian People
/
Gene Frequency
/
Genetic Counseling
/
Genetics, Population
/
Hearing
/
Hearing Loss
Limits:
Adult
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Clinical and Experimental Otorhinolaryngology
Year:
2010
Type:
Article
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