Sequence Variations and Haplotypes of the Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea

• Main Authors: Hee-Jung Kim, 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
• Format: Article
• Language: English
• Published: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2010-06-01
• Series: Clinical and Experimental Otorhinolaryngology
• Subjects: Resequencing; Sequence variations; Haplotype; Korea
• Online Access: http://www.e-ceo.org/upload/pdf/ceo-3-65.pdf

ObjectivesHearing 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.MethodsWe 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.ResultsFive 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.ConclusionWe 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.