Mutation analysis of factor VIII in Korean patients with severe hemophilia A
- Authors
- You, CW[You, Chur-Woo]; Son, HS[Son, Hee-Sook]; Kim, HJ[Kim, Hee Jin]; Woo, EJ[Woo, Eui-Jeon]; Kim, SA[Kim, Soon-Ae]; Baik, HW[Baik, Haing-Woon]
- Issue Date
- Jun-2010
- Publisher
- SPRINGER TOKYO
- Keywords
- Severe hemophilia A; Korean; Factor VIII; Mutation
- Citation
- INTERNATIONAL JOURNAL OF HEMATOLOGY, v.91, no.5, pp.784 - 791
- Indexed
- SCIE
SCOPUS
- Journal Title
- INTERNATIONAL JOURNAL OF HEMATOLOGY
- Volume
- 91
- Number
- 5
- Start Page
- 784
- End Page
- 791
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/74071
- DOI
- 10.1007/s12185-010-0593-x
- ISSN
- 0925-5710
- Abstract
- Hemophilia A is an X-linked recessive disorder caused by mutations of the factor VIII gene. The mutation spectrum has been reported in various populations, but not in Koreans. Mutation analysis of the factor VIII gene was performed in 22 unrelated Korean patients with severe hemophilia A. We extracted genomic DNA from their blood, and assessed intron inversions, deletions, and point mutations by direct DNA sequencing. A multiplex ligation-dependent probe amplification gene dosage assay was also performed to identify exon deletions. Disease-causing mutations were identified in all patients, of which four cases were previously unreported. Seven intron 22 inversions, nine point mutations (6 nonsense mutations and 3 missense mutations), and four small rearrangements were identified. One multi-exon deletion and one 5'-donor splicing site mutation were also observed. Four novel mutations (one small deletion, one multiple exon deletion, one missense, and one splice site mutation) were detected, and point mutations were predominant (40.9%), followed by intron 22 inversions (31.8%). Further studies are required in order to establish a solid conclusion regarding the prevalence of various mutations in the Korean population.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.