Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection

Haemophilia

Volumn 7, Issue 3, 2001, Pages 335-338

  Yenchitsomanus, P ^a   Thanootarakul, P ^a   Akkarapatumwong, V ^a   Oranwiroon, S ^a   Pung Amritt, P ^a   Veerakul, G ^a   Mahasandana, C ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Factor VIII gene; Factor VIII transcript; Haemophilia A; Mutation detection; Splicing defect; Thai

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ALLELE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HEMOPHILIA A; HUMAN; HUMAN TISSUE; LETTER; PRIORITY JOURNAL; RNA SPLICING; TECHNIQUE;

ALLELES; EXONS; FACTOR VIII; FAMILY HEALTH; FEMALE; HEMOPHILIA A; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0034999139     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2001.00507.x     Document Type: Letter

References (11)

1. Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 1995; 5: 1-22.
2. Kemball-Cook G, Tuddenham EGD, Wacey AI. The factor VIII Structure and Mutation Resource Site: HAMSTeRS, Version 4. Nucl Acids Res 1998; 26: 216-9.
3. Chelly J, Concordet JP, Kaplan JC, Kahn A. Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 1989; 86: 2617-21.
4. Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F. Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet 1991; 337: 635-9.
5. Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 11-7.
6. Tavassoli K, Eigel A, Wilke K, Pollmann H, Horst J. Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. Hum Mutat 1998; 12: 301-3.
7. Akkarapatumwong V, Oranwiroon S, Pung-amritt P et al. Mutations of the factor VIII gene in Thai hemophilia A patients. Hum Mutat 2000; 15: 117-8.
8. Little S. ARMS analysis of point mutations. In: Taylor GR. eds. Laboratory Methods for the Detection of Mutations and Polymorphisms in DNA Boca Raton: CRC Press. 1997: 45-51.
9. Liu M, Muphy MEP, Thompson AR. A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII protein. Br J Haematol 1998; 103: 1051-60.
10. Tavassoli K, Eigel A, Pollmann H, Horst J. Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel mutations. Hum Genet 1997; 100: 508-11.
11. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional applications in gene expression. Nucl Acids Res 1987; 15: 7155-74.