Identification of an ancient haemophilia A splice site mutation

Thrombosis Research

Volumn 130, Issue 3, 2012, Pages 445-450

  Reitter Pfoertner, Sylvia ^a   Von Haeseler, Arndt ^b   Horvath, Birgit ^a   Sunder Plassmann, Raute ^a   Tiedje, Vera ^a   Pabinger, Ingrid ^a   Mannhalter, Christine ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

Author keywords

Founder; Haemophilia; Splie site mutation

Indexed keywords

RNA;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FOUNDER EFFECT; GENE FREQUENCY; GENE LOCUS; GENEALOGY; HAPLOTYPE; HEMOPHILIA A; HUMAN; INTRON; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; SPLICE SITE MUTATION; SPLICING DEFECT;

AUSTRIA; FACTOR VIII; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; RNA SPLICE SITES;

EID: 84865248090     PISSN: 00493848     EISSN: 18792472     Source Type: Journal    
DOI: 10.1016/j.thromres.2012.02.008     Document Type: Article

References (20)

1. M.P. Bicocchi, M. Pasino, T. Lanza, F. Bottini, E. Boeri, and P.G. Mori Analysis of 18 novel mutations in the factor VIII gene Br J Haematol 122 5 2003 810 817
2. The Haemophilia A Mutation, Structure, Test and Resource Site. 12-3-2010.Ref Type: Internet Communication.
3. D. Lakich, H.H. Kazazian Jr., S.E. Antonarakis, and J. Gitschier Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Nat Genet 5 3 1993 236 241
4. R.D. Bagnall, N. Waseem, P.M. Green, and F. Giannelli Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A Blood 99 1 2002 168 174
5. F.B. Machado, and E. Medina-Acosta High-resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection Haemophilia 15 1 2009 297 308
6. S. Keeney, M. Mitchell, and A. Goodeve The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network Haemophilia 11 4 2005 387 397
7. S. Reitter, R. Sturn, B. Horvath, R. Freitag, C. Male, and W. Muntean Spectrum of causative mutations in patients with haemophilia A in Austria Thromb Haemost 104 1 2010 78 85
8. O. El-Maarri, U. Herbiniaux, J. Graw, J. Schroder, A. Terzic, and M. Watzka Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene J Thromb Haemost 3 2 2005 332 339
9. CMGS website. Sequencing Best Practice Guidelines http://www.cmgs.org/ BPGs/best-practice-guidelines.htm 20-9-2010 Ref Type: Internet Communication
10. A. Zivelin, J.H. Griffin, X. Xu, I. Pabinger, M. Samama, and J. Conard A single genetic origin for a common Caucasian risk factor for venous thrombosis Blood 89 2 1997 397 402
11. A. Zivelin, N. Rosenberg, S. Faier, N. Kornbrot, H. Peretz, and C. Mannhalter A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene Blood 92 4 1998 1119 1124
12. I.J. Wilson, M.E. Weale, and D.J. Balding Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities J R Statist Soc A 166 Part 2 2003 155 201
13. W.M. Fitch Rate of change of concomitantly variable codons J Mol Evol 1 1 1971 84 96
14. 2 test Biometrics 10 1954 417 451
15. M. Citron, L. Godmilow, T. Ganguly, and A. Ganguly High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation Hum Mutat 20 4 2002 267 274
16. T.C. Matise, F. Chen, W. Chen, L.V. De, F.M. De La Vega, M. Hansen, and C. He A second-generation combined linkage physical map of the human genome Genome Res 17 12 2007 1783 1786
17. C. Sabatti, and N. Risch Homozygosity and linkage disequilibrium Genetics 160 4 2002 1707 1719
18. K. Ballantyne GMFRSOLOWA. Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications Am J Hum Genet 87 2010 341 353
19. S. Reitter, T. Waldhoer, C. Vutuc, K. Lechner, and I. Pabinger Survival in a cohort of patients with haemophilia at the haemophilia care center in Vienna, Austria, from 1983 to 2006 Haemophilia 15 4 2009 888 893
20. S.A. Larsson Life expectancy of Swedish haemophiliacs, 1831-1980 Br J Haematol 59 4 1985 593 602