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KMID : 1195620100030020065
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Clinical and Experimental Otorhinolaryngology
2010 Volume.3 No. 2 p.65 ~ p.69
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Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea
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Kim Hee-Jung
Park Chang-Hun
Kim Hee-Jin
Lee Ki-O
Won Hong-Hee
Ko Moon-Hee
Chu Ho-Suk
Cho Yang-Sun
Chung Won-Ho
Kim Jong-Won
Hong Suk-Kyung
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Abstract
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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.
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KEYWORD
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GJB2, Resequencing, Sequence variations, Haplotype, Korea
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