Identification of intron 1 and 22 inversion mutations in the factor VIII gene of 124 Iranian families with severe haemophilia A

Haemophilia

Volumn 10, Issue 4, 2004, Pages 410-411

  Lari, G Rastegar ^a   Enayat, M S ^c   Arjang, Z ^a   Lavergne, J M ^b   Ala, F ^a  

^a Comprehensive Haemophilia Care Ctr ^*  (Iran)

^b BICÊTRE HOSPITAL   (France)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; GENOMIC DNA;

CHROMOSOME INVERSION; CLINICAL OBSERVATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HEMOPHILIA A; HETEROZYGOTE; HUMAN; INCIDENCE; INTRON; IRAN; LETTER; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGISTER; RELATIVE; STATISTICAL ANALYSIS;

EID: 4043055142     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2004.00920.x     Document Type: Letter

References (9)

1. Kemball-Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-9.
2. Naylor JA, Green PM, Rizza CR, Giannelli F. The factor VIII gene explains all cases of haemophilia A. Lancet 1992; 340:1066-7.
3. Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
4. Becker J, Schwaab R, Möller-Taube A et al. Characterization of the factor VIII defect in 147 patients with sporadic haemophilia A: family studies indicate a mutation type dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
5. Lakich D, Kazazian HH, Antonarakis SE, Gitchier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
6. Liu Q, Nopzari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A. Blood 1998; 92: 1458-9.
7. Bagnall D, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
8. Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Giannelli F. Two chimeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum Mol Gen 1996; 5: 1945-51.
9. Schwaab R, Brackmann HH, Meyer C et al. Haemophilia A: mutation type determines the risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.