Cited 0 times in Scipus Cited Count

Profiling of factor VIII mutations in Korean haemophilia A.

Authors
Hwang, SH | Kim, MJ | Lim, JA | Kim, HC  | Kim, HS
Citation
Haemophilia, 15(6). : 1311-1317, 2009
Journal Title
Haemophilia
ISSN
1351-82161365-2516
Abstract
Haemophilia A (HA) is an X chromosome-linked inherited bleeding disorder caused by heterogeneous mutations of coagulation factor VIII (FVIII). Although more than 900 mutations of FVIII gene are reported in the HAMSTeRS database, the mutation data regarding the FVIII gene in the Korean population is currently insufficient. The aim of this study was to profile the mutations of FVIII in Korean HA, 38 unrelated Korean HA male patients were examined. Peripheral blood samples were obtained from the patients. Long distance-PCR was performed for the identification of inversions in intron 22 and intron 1. Then gross exon deletion was examined to the inversion-negative patients by multiplex-PCR. Finally, direct sequencing was performed on exons 1-26, 5'- and 3'-UTR. We identified 33 mutations from the 38 patients. These included 15 inversions in intron 22 (39.5%), one inversion in intron 1 (2.6%), one gross exon deletion (2.6%), five deletions (13.2%), two insertions (5.3%), six missense (15.8%) and three nonsense mutations (7.9%). Mutation types for five patients (13.2%) were not identified in this study. We determined that the most common defect in FVIII in this study was an inversion mutation in intron 22; this is consistent with the findings of other studies. For the first time in Korean HA, a patient with intron 1 inversion was found. In addition, we report eight novel mutation types which never been reported in HAMSTeRS database. The mutation data in this study should prove useful as a reference for the diagnosis of HA and the detection of carriers in the Korean population.
MeSH

DOI
10.1111/j.1365-2516.2009.02086.x
PMID
19719548
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Hematology-Oncology
Ajou Authors
김, 효철
Files in This Item:
There are no files associated with this item.
Export

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse