지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 219 - 224 (6page)
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초록· 키워드
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Background: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians.
Methods: In the present study, we describe the cases of 2 Korean CF patients, present sequencing results identifying mutations in their CFTR gene, and summarize the results of CFTR mutational spectrum from previously reported Korean CF patients. The mutations described were identified by performing direct sequencing analysis of the complete coding regions and flanking intronic sequences of the CFTR gene, followed by multiplex ligation-dependent probe amplification (MLPA) analysis in order to detect gene deletions or duplications that could not be identified by a direct sequencing method.
Results: Three CFTR mutations were identified in the 2 patients, including p.Q98R, c.2052delA, and c.579+5G>A. In an analysis of 9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles). Furthermore, only one of the mutations (c.3272-26A>G) was found among the 32 common mutations in the screening panel for Caucasians from the Cystic Fibrosis Mutation Database.
Conclusions: Sequencing of the entire CFTR gene followed by MLPA analysis, rather than using the targeted sequencing-based screening panel for mutations commonly found in Caucasian populations, is recommended for genetic analysis of Korean CF patients.
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참고문헌 (27)
참고문헌 신청
Ahn KM / 2005 / Cystic Fibrosis in Korean Children:A Case Report Identified by a Quantitative Pilocarpine Iontophoresis Sweat Test and Genetic Analysis / Journal of Korean M
Alibakhshi R / 2008 / Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations / J Cyst Fibros 7 : 102 ~ 109
Bear CE / 1992 / Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR) / Cell 68 : 809 ~ 818
Behrman R / 2004 / Nelson textbook of pediatrics. 17th ed / Saunders
Bowler IM / 1993 / Cystic fibrosis in Asians / Arch Dis Child 68 : 120 ~ 122
Alibakhshi R / 2008 / Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations / J Cyst Fibros 7 : 102 ~ 109
Bear CE / 1992 / Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR) / Cell 68 : 809 ~ 818
Behrman R / 2004 / Nelson textbook of pediatrics. 17th ed / Saunders
Bowler IM / 1993 / Cystic fibrosis in Asians / Arch Dis Child 68 : 120 ~ 122
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