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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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2010
Materias:
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
Descripción
Sumario: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.