Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea.
- Author:
Hee Jung KIM
1
;
Chang Hun PARK
;
Hee Jin KIM
;
Ki O LEE
;
Hong Hee WON
;
Moon Hee KO
;
Hosuk CHU
;
Yang Sun CHO
;
Won Ho CHUNG
;
Jong Won KIM
;
Sung Hwa HONG
Author Information
- Publication Type:Original Article
- Keywords: GJB2; Resequencing; Sequence variations; Haplotype; Korea
- MeSH: Adult; Asian Continental Ancestry Group; Connexins; Founder Effect; Gene Frequency; Genetic Counseling; Genetics, Population; Haplotypes; Hearing; Hearing Loss; Humans; Korea; Linkage Disequilibrium; Molecular Biology
- From:Clinical and Experimental Otorhinolaryngology 2010;3(2):65-69
- CountryRepublic of Korea
- Language:English
- 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.
