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Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
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  • Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
  • Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
저자명
Kim. Hyogyeong,Lim. Hwan-Sub,Ryu. Jae-Song,Kim. Hyun-Chul,Lee. Sanghoo,Kim. Yun-Tae,Kim. Young-Jin,Lee. Kyoung-Ryul,Park. Hong-J
간행물명
Journal of genetic medicine
권/호정보
2014년|11권 2호|pp.63-68 (6 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Purpose: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal recessive nonsyndromic hearing loss associated with enlarged vestibular aqueduct and Pendred syndrome. Although most studies of SLC26A4 mutations have dealt with hearing-impaired patients, there are a few reports on the frequency of these mutations in the general population. The purpose of this study was to evaluate the prevalence of SLC26A4 mutations that cause inherited deafness in the general Korean population. Materials and Methods: We obtained blood samples from 144 Korean individuals with normal hearing. The samples were subjected to polymerase chain reaction to amplify the entire coding region of the SLC26A4 gene, followed by direct DNA sequencing. Results: Sequencing analysis of this gene identified 5 different variants (c.147C>G, c.225G>C, c.1723A>G, c.2168A>G, and c.2283A>G). The pathogenic mutation c.2168A>G (p.H723R) was identified in 1.39% (2/144) of the subjects with normal hearing. Conclusion: These data provide information about carrier frequency for SLC26A4 mutation-associated hearing loss and have important implications for genetic diagnostic testing for inherited deafness in the Korean population.