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Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea
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 sequen...
Autores principales: | , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Korean Society of Otorhinolaryngology-Head and Neck Surgery
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896735/ https://www.ncbi.nlm.nih.gov/pubmed/20607074 http://dx.doi.org/10.3342/ceo.2010.3.2.65 |
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author | Kim, Hee-Jung Park, Chang-Hun Kim, Hee-Jin Lee, Ki-O Won, Hong-Hee Ko, Moon-Hee Chu, Hosuk Cho, Yang-Sun Chung, Won-Ho Kim, Jong-Won Hong, Sung Hwa |
author_facet | Kim, Hee-Jung Park, Chang-Hun Kim, Hee-Jin Lee, Ki-O Won, Hong-Hee Ko, Moon-Hee Chu, Hosuk Cho, Yang-Sun Chung, Won-Ho Kim, Jong-Won Hong, Sung Hwa |
author_sort | Kim, Hee-Jung |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2896735 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Korean Society of Otorhinolaryngology-Head and Neck Surgery |
record_format | MEDLINE/PubMed |
spelling | pubmed-28967352010-07-06 Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea Kim, Hee-Jung Park, Chang-Hun Kim, Hee-Jin Lee, Ki-O Won, Hong-Hee Ko, Moon-Hee Chu, Hosuk Cho, Yang-Sun Chung, Won-Ho Kim, Jong-Won Hong, Sung Hwa Clin Exp Otorhinolaryngol Original Article 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. Korean Society of Otorhinolaryngology-Head and Neck Surgery 2010-06 2010-06-30 /pmc/articles/PMC2896735/ /pubmed/20607074 http://dx.doi.org/10.3342/ceo.2010.3.2.65 Text en Copyright © 2010 Korean Society of Otorhinolaryngology-Head and Neck Surgery http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Kim, Hee-Jung Park, Chang-Hun Kim, Hee-Jin Lee, Ki-O Won, Hong-Hee Ko, Moon-Hee Chu, Hosuk Cho, Yang-Sun Chung, Won-Ho Kim, Jong-Won Hong, Sung Hwa Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title | Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title_full | Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title_fullStr | Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title_full_unstemmed | Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title_short | Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea |
title_sort | sequence variations and haplotypes of the gjb2 gene revealed by resequencing of 192 chromosomes from the general population in korea |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896735/ https://www.ncbi.nlm.nih.gov/pubmed/20607074 http://dx.doi.org/10.3342/ceo.2010.3.2.65 |
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