Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR

Nicole L. Kilian; Vera Pospisil; Vickie Hanrahan

doi:10.1160/TH05-09-0605

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2006; 95(04): 746-747
DOI: 10.1160/TH05-09-0605

Letters to the Editor

Schattauer GmbH

Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR

Authors

Nicole L. Kilian

¹Molecular Pathology Section, Canterbury Health Laboratories, Christchurch, New Zealand
Vera Pospisil

¹Molecular Pathology Section, Canterbury Health Laboratories, Christchurch, New Zealand
Vickie Hanrahan

¹Molecular Pathology Section, Canterbury Health Laboratories, Christchurch, New Zealand

Abstract

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References

References
1 Lakich D, Kazazian Jr HH, Antonarakis SE. et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 05: 236-41.
2 Naylor J, Brinke A, Hassock S. et al. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 02: 1773-8.
3 Higuchi M, Kazazian Jr HH, Kasch L. et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci USA 1991; 88: 7405-9.
4 Naylor JA, Buck D, Green P. et al. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995; 04: 1217-24.
5 Liu Q, Thorland EC, Heit JA. et al. Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res 1997; 07: 389-98.
6 Liu Q, Sommer SS. Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques 1998; 25: 1022-8.
7 Polakova H, Zmetakova I, Kadasi L. Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients. Gen Physiol Biophys 2003; 22: 243-53.
8 Rossetti LC, Radic CP, Larripa IB. et al. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-8.
9 De Brasi CD, Rossetti LC, Larripa IB. Rapid genotyping of XbaI and MspI DNA polymorphisms of the human factor VIII gene: estimation of their combined heterozygosity in the Argentinean population. Haematologica 2003; 88: 232-4.
10 Yu M, Honoki K, Andersen J. et al. MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype. Leukemia 1996; 10: 774-80.
11 Cuilla T, Sklar R, Hauser S. A simple method for DNA purification from peripheral blood. Analyt Biochem 1998; 174: 485-8.