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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1 - 9 (9page)
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Background: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA. Methods: We enrolled 114 children with WD from 104 unrelated families based on biochemical tests and direct DNA full sequencing. The patients with one or zero mutant allele were investigated using MLPA. We analyzed phenotypic correlations. Results: Total allele frequency by full sequencing was 87.5%. Full sequencing revealed two mutant alleles in 80 of 104 unrelated children. One mutant allele was detected in 22 children, and no mutations were found in two children. Novel mutations including small deletions with frameshift mutations were identified by DNA sequencing. MLPA revealed no gross deletion or duplication in 24 children with one or zero mutant alleles. The number of detected mutations was not associated with hepatic manifestation, age of onset, Kayser- Fleischer ring, ceruloplasmin, and urinary Cu concentrations. Conclusion: MLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.
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참고문헌 (32)
참고문헌 신청
Seo JK / 2004 / A nation wide survey for prevalence and clinical characteristics of Wilson disease in Korea / Korean J Hepatol 10(Suppl 1):5~20
Sherlock S / 1993 / Wilson's disease;Diseases of the Liver and Biliary Systems, Ninth Edition / Blackwell Science :400~407
Jung Ah Kim / 2015 / Diagnostic Value of Ceruloplasmin in the Diagnosis of PediatricWilson’s Disease / Pediatric Gastroenterology, Hepatology & Nutrition 18(3):187~192
Tanner M / 1999 / Disorders of copper metabolism;Diseases of the Liver and Biliary System in Children / Blackwell Science :167~185
Tanzi RE / 1993 / The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene / Nat Genet 5(4):344~350
Sherlock S / 1993 / Wilson's disease;Diseases of the Liver and Biliary Systems, Ninth Edition / Blackwell Science :400~407
Jung Ah Kim / 2015 / Diagnostic Value of Ceruloplasmin in the Diagnosis of PediatricWilson’s Disease / Pediatric Gastroenterology, Hepatology & Nutrition 18(3):187~192
Tanner M / 1999 / Disorders of copper metabolism;Diseases of the Liver and Biliary System in Children / Blackwell Science :167~185
Tanzi RE / 1993 / The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene / Nat Genet 5(4):344~350
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