RGD Reference Report - Mutations of the factor VIII gene in thai hemophilia A patients. - Rat Genome Database

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Mutations of the factor VIII gene in thai hemophilia A patients.

Authors: Akkarapatumwong, V  Oranwiroon, S  Pung-amritt, P  Treesucon, A  Thanootarakul, P  Veerakul, G  Mahasandana, C  Panyim, S  Yenchitsomanus, P 
Citation: Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8.
RGD ID: 10450758
Pubmed: PMID:10612839   (View Abstract at PubMed)
DOI: DOI:10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F8Ratfactor VIII deficiency  ISOF8 (Homo sapiens)DNA:missense mutations more ...RGD 
F8Humanfactor VIII deficiency  IAGP DNA:missense mutations more ...RGD 
F8Mousefactor VIII deficiency  ISOF8 (Homo sapiens)DNA:missense mutations more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
F8  (coagulation factor VIII)

Genes (Mus musculus)
F8  (coagulation factor VIII)

Genes (Homo sapiens)
F8  (coagulation factor VIII)


Additional Information