Journal of Genetic Medicine

  • 제11권2호
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  • Pages.63-68
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  • 2014
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population

  • Kim, Hyogyeong (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Lim, Hwan-Sub (Department of Laboratory Medicine, Kwandong University College of Medicine) ;
  • Ryu, Jae-Song (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Kim, Hyun-Chul (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Lee, Sanghoo (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Kim, Yun-Tae (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Kim, Young-Jin (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Lee, Kyoung-Ryul (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories) ;
  • Park, Hong-Joon (Department of Otorhinolaryngology, Soree Ear Clinic) ;
  • Han, Sung-Hee (Department of Laboratory Medicine, Seoul Medical Science Institute, Seoul Clinical Laboratories)
  • 투고 : 2014.06.30
  • 심사 : 2014.10.31
  • 발행 : 2014.12.31
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초록

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.

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참고문헌

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