Thromb Haemost 1993; 70(01): 060-062
DOI: 10.1055/s-0038-1646160
State-of-the-Art Lecture
Hemophilia
Schattauer GmbH Stuttgart

The Molecular Basis of Hemophilia A and the Present Status of Carrier and Antenatal Diagnosis of the Disease

Haig H Kazazian Jr
Center for Medical Genetics, Departments of Pediatrics and Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
› Author Affiliations
Further Information

Publication History

Publication Date:
03 July 2018 (online)

 
  • References

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  • 2 Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DN, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-330
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  • 4 Tantravahi V, Murty VS, Jhanwar SC, Toole JJ, Wozney JM, Cha-ganti RSK, Latt SA. Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: Implications for factor VIII gene segregation analysis.. Cyto-genet Cell Genet 1986; 42: 75-79
  • 5 Freije D, Schlessinger D. A 1.6 Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. Am J Hum Genet 1992; 51: 66-80
  • 6 Migeon BR, McGinnis MJ, Antonarakis SE, Axelman J, Youssoufian H, Kearns WG, Chung A, Pearson PK, Kazazian Jr HH, Muneer RS. Severe hemophilia A in a female by cryptic translocation: order and orientation for factor VIII within Xq28. Genomics, in press
  • 7 Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935; 31: 317-326
  • 8 Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian Jr HH. Nonsense and missense mutations in hemophilia A: Estimate of the relative mutation rate at CG dinucleotides. Amer J Hum Genet 1988; 42: 718-725
  • 9 Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988; 78: 151-155
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  • 11 Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian Jr HH. Isolation of a human transposable element. Science 1991; 254: 1808-1810
  • 12 Tuddenham EGD, Cooper DN, Gitschier J, Higuchi M, Hoyer LW, Yoshioka A, Peake IR, Schwaab R, Olek K, Kazazian Jr HH, Lavergne JM, Giannelli F, Antonarakis SE. Haemophilia A: database of nucleotide substitutions, deletions, insertions, and rearrangements of the factor VIII gene. Nucleic Acids Res. 1991; 19: 4821-4833
  • 13 Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Petersen EE, Olek K, Inaba H, Kazazian Jr HH. Towards complete characterization of mild to moderate hemophilia A: Detection of the molecular defect in 25 of 29 patients by denaturing gradient gel electrophores-sis. Proc Natl Acad Sci USA 1991; 88: 8307-8311
  • 14 Higuchi M, Kazazian HH, Kasch Jr L, Warren TC, McGinniss MJ, Phillips III JA, Kasper C, Janco R, Antonarakis SE. 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: 7405-7409
  • 15 Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of hemophilia A. Lancet 1992; 340: 1066-1067
  • 16 Antonarakis SE. Personal communication.
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  • 19 Antonarakis SE, Phillips JA, Mallonee III RL, Kazazian Jr HH, Waber PG, Kronenberg HM, Ullrich A, Meyers DA. Hemophilia A: Molecular defects and carrier detection by DNA analysis. Proc Natl Acad Sci USA 1983; 80: 6615-6619
  • 20 Lalloz MR, McVey JH, Pattinson JK, Tuddenham EG. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991; 338: 207-211