Publication: Mutations of the factor VIII gene in thai hemophilia A patients
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2000-01-01
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10981004
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2-s2.0-0033631355
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Mahidol University
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SCOPUS
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Human mutation. Vol.15, No.1 (2000), 117-118
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V. Akkarapatumwong, S. Oranwiroon, P. Pung-amritt, A. Treesucon, P. Thanootarakul, G. Veerakul, C. Mahasandana, S. Panyim, P. Yenchitsomanus Mutations of the factor VIII gene in thai hemophilia A patients. Human mutation. Vol.15, No.1 (2000), 117-118. doi:10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/25896
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Mutations of the factor VIII gene in thai hemophilia A patients
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Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene. The entire coding and essential sequences of the factor VIII gene were generated by a combination of genomic DNA amplification and long reverse transcription-polymerase chain reaction (long RT-PCR) using factor VIII transcripts prepared from lymphocytes. Mutations were then screened by non-radioactive single strand conformation polymorphism (SSCP) analysis and characterized by DNA sequencing. We have identified six potentially pathogenic mutations in the factor VIII gene in Thai hemophilia A patients, including two nonsense mutations (R-5X and R1966X), three missense mutations (D542Y, G1850V, and G2325C), and a 4-bp insertion (ACTA) at codon 2245. Three of these mutations (D542Y, G2325C, and 4-bp insertion) have never been previously reported, and the ins2245 is the first example of such insertion probably causing factor VIII elongation. R1966X, D542Y, G1850V, and 4-bp insertion were associated with a severe hemophiliac phenotype whereas R-5X and G2325C were observed in moderately affected patients. Mutations in the factor VIII gene in Thai hemophilia A patients are likely to be heterogeneous. This study represents the first attempt to further the understanding of the molecular basis of hemophilia A in Thai. Copyright 2000 Wiley-Liss, Inc.