Genetic analysis of mutations in seven Japanese families with type I antithrombin deficiency

Seminars in Thrombosis and Hemostasis

Volumn 24, Issue 3, 1998, Pages 233-236

  Ozawa, Tetsuo ^a   Sakuragawa, Nobuo ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

Author keywords

Antithrombin deficiency; Genetic diagnosis; Mutation; Polymerase chain reaction; Thrombosis

Indexed keywords

ALANINE; AMINO ACID; ANTITHROMBIN; ARGININE; CYSTEINE; CYTOSINE; DNA; NUCLEOTIDE; PHENYLALANINE; THYMINE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ANTITHROMBIN DEFICIENCY; CLINICAL ARTICLE; CONFERENCE PAPER; DEEP VEIN THROMBOSIS; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; JAPAN; LUNG EMBOLISM; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; VEIN THROMBOSIS;

EID: 0031817183     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-995847     Document Type: Conference Paper

References (10)

1. Olds RJ, Lane DA, Chowdhury V, et al. Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia. Biochemistry 1993;32: 4216-4224
2. Prochownik EV. Relationship between an enhancer element in the human antithrombin III gene and an immunoglobulin light-chain gene enhancer. Nature 1985;316:845-848
3. Fernadez-Rachubinski FA, Weiner JH, Blajchman MA. Regions flanking exon 1 regulate constitutive expression of the human antithrombin gene. J Biol Chem 1996;271:29502-29512
4. Vidaud D, Emmerich J, Sirieix ME, Alhenc-Gelas M, Aiach M. Molecular basis for antithrombin III type 1 deficiency: Three novel mutations located in exon IV. Blood 1991;78:2305-2309
5. Oguma Y, Sakuragawa N, Hiraga K. The antithrombin III gene polymorphism in Japan: Examination for haplotypes relevant to antithrombin III biosynthesis. Thromb Res 1992;65:519-531
6. Ozawa T, Takikawa Y, Niiya K, et al. Antithrombin Morioka (Cys95-Arg): A novel missense mutation causing type I antithrombin deficiency. Thromb Haemostas 1997;77:403
7. Ozawa T, Niiya K, Inoue N, et al. A novel 4 base pair deletion mutation inducing type 1 antithrombin deficiency. Thromb Res 1997;85:515-517
8. Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database: 2nd (1997) update for the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemostas 1997;77:197-211
9. Emmerich J, Vidaud D, Alhenc-Gelas M, et al. Three novel mutations of antithrombin inducing high-molecular-mass compounds. Arteroscler Thromb 1994;14:1958-1965
10. Efstratiadis A, Posakony JW, Maniatis T, et al. The structure and evolution of the human β-globin gene family. Cell 1980;21: 653-668