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
- 1 - 7 (7page)
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초록· 키워드
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Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions in the large and small ribosomal protein genes, and genetic aberrations have been detected in B50–60% of patients. In this study, nine Korean DBA patients were screened for mutations in eight known DBA genes (RPS19, RPS24, RPS17, RPS10, RPS26, RPL35A, RPL5 and RPL11) using the direct sequencing method. Mutations in RPS19, RPS26 and RPS17 were detected infour, two and one patient, respectively. Among the mutations detected in RPS19, two mutations were novel (c.26T4A, c.357- 2A4G). For the mutation-negative cases, array-CGH analysis was performed to identify copy-number variations, and no deletions involving the known DBA gene regions were identified. The relative mRNA expression of RPS19 estimated using realtime quantitative PCR analysis revealed two- to fourfold reductions in RPS19 mRNA expression in three patients with RPS19 mutations, and p53 protein expression analysis by immunohistochemistry showed variable but significant nuclear staining in the DBA patients. In conclusion, heterozygous mutations in the known DBA genes RPS19, RPS26 and RPS17 were detected in seven out of nine Korean DBA patients. Among these patients, RPS19 was the most frequently mutated gene. In addition,decreased RPS19 mRNA expression and p53 overexpression were observed in the Korean DBA patients, which supports the hypothesis that haploinsufficiency and p53 hyperactivation represent a central pathway underlying the pathogenesis of DBA.
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참고문헌 (23)
참고문헌 신청
Bessler M / 2008 / Nathan and Oski’s hematology of infancy and childhood / Saunders : 351 ~ 360
Boria I / 2010 / The ribosomal basis of Diamond-Blackfan Anemia : mutation and database update / Hum Mutat 31 : 1269 ~ 1279
Campagnoli MF / 2004 / Molecular basis of Diamond-Blackfan anemia : new findings from the Italian registry and a review of the literature / Haematologica 89 : 480 ~ 489
Campagnoli MF / 2008 / RPS19 mutations in patients with Diamond-Blackfan anemia / Hum Mutat 29 : 911 ~ 920
Cmejla R / 2007 / Ribosomal protein S17 gene(RPS17)is mutated in Diamond-Blackfan anemia / Hum Mutat 28 : 1178 ~ 1182
Boria I / 2010 / The ribosomal basis of Diamond-Blackfan Anemia : mutation and database update / Hum Mutat 31 : 1269 ~ 1279
Campagnoli MF / 2004 / Molecular basis of Diamond-Blackfan anemia : new findings from the Italian registry and a review of the literature / Haematologica 89 : 480 ~ 489
Campagnoli MF / 2008 / RPS19 mutations in patients with Diamond-Blackfan anemia / Hum Mutat 29 : 911 ~ 920
Cmejla R / 2007 / Ribosomal protein S17 gene(RPS17)is mutated in Diamond-Blackfan anemia / Hum Mutat 28 : 1178 ~ 1182
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