지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 63 - 68 (6page)
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초록· 키워드
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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 (31)
참고문헌 신청
Fortnum HM / 2001 / Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening:questionnaire based ascertainment study / BMJ 323:536~540
Marazita ML / 1993 / Genetic epidemiological studies of early-onset deafness in the U.S. school-age population / Am J Med Genet 46:486~491
Hilgert N / 2009 / Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? / Mutat Res 681:189~196
Han SH / 2008 / Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population / J Hum Genet 53:1022~1028
Park HJ / 2003 / Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness / J Med Genet 40:242~248
Marazita ML / 1993 / Genetic epidemiological studies of early-onset deafness in the U.S. school-age population / Am J Med Genet 46:486~491
Hilgert N / 2009 / Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? / Mutat Res 681:189~196
Han SH / 2008 / Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population / J Hum Genet 53:1022~1028
Park HJ / 2003 / Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness / J Med Genet 40:242~248
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