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Volumn 4, Issue 6, 1998, Pages 812-819

Linkage analysis in haemophilia A: Simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation

Author keywords

BclI RFLP; Factor VIII; Genetic markers; Haemophilia A; Heteroduplex; Intron 7 polymorphism

Indexed keywords

BLOOD CLOTTING FACTOR 8; HETERODUPLEX; RESTRICTION ENDONUCLEASE;

EID: 0031794398     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.1998.00202.x     Document Type: Article
Times cited : (8)

References (21)
  • 1
    • 0021750055 scopus 로고
    • Characterisation of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM, et al. Characterisation of the human factor VIII gene. Nature 1984; 312: 326-30.
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 2
    • 0028031538 scopus 로고
    • Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, 2nd edn
    • Tuddenham EGD, Schwaab R, Seehafer J, et al. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, 2nd edn. Nucl Acids Res 1994; 22: 3511-33.
    • (1994) Nucl Acids Res , vol.22 , pp. 3511-3533
    • Tuddenham, E.G.D.1    Schwaab, R.2    Seehafer, J.3
  • 3
    • 7844229058 scopus 로고
    • Factor VIII
    • Poller L, ed. Edinburgh: Churchill Livingstone
    • Bowen DJ, Bloom AL. Factor VIII. In: Poller L, ed. Recent Advances in Blood Coagulation, Vol. 6. Edinburgh: Churchill Livingstone, 1993, 69-90.
    • (1993) Recent Advances in Blood Coagulation , vol.6 , pp. 69-90
    • Bowen, D.J.1    Bloom, A.L.2
  • 4
    • 0025822844 scopus 로고
    • Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
    • Lalloz MRA, McVey JH, Pattinson JK, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991; 338: 207-11.
    • (1991) Lancet , vol.338 , pp. 207-211
    • Lalloz, M.R.A.1    McVey, J.H.2    Pattinson, J.K.3    Tuddenham, E.G.D.4
  • 5
    • 4243617338 scopus 로고
    • Haemophilia A diagnosis by analysis of a novel dinculeotide tandem repeat sequence within the factor VIII gene
    • Lalloz MRA, McVey JH, Michaelides K, Tuddenham EGD. Haemophilia A diagnosis by analysis of a novel dinculeotide tandem repeat sequence within the factor VIII gene (abstract). Br J Haematol 1992; 80: 3a.
    • (1992) Br J Haematol , vol.80
    • Lalloz, M.R.A.1    McVey, J.H.2    Michaelides, K.3    Tuddenham, E.G.D.4
  • 6
    • 0025257058 scopus 로고
    • Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
    • Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 2092-6.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 2092-2096
    • Kogan, S.1    Gitschier, J.2
  • 7
    • 0021873242 scopus 로고
    • Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene
    • Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 1985; 314: 738-40.
    • (1985) Nature , vol.314 , pp. 738-740
    • Gitschier, J.1    Drayna, D.2    Tuddenham, E.G.D.3    White, R.L.4    Lawn, R.M.5
  • 8
    • 0023242425 scopus 로고
    • An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences
    • Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. New Engl J Med 1987; 317: 985-90.
    • (1987) New Engl J Med , vol.317 , pp. 985-990
    • Kogan, S.C.1    Doherty, M.2    Gitschier, J.3
  • 9
    • 0030068698 scopus 로고    scopus 로고
    • Genetic screening and testing by induced heteroduplex formation
    • Wood N, Bidwell J. Genetic screening and testing by induced heteroduplex formation. Electrophoresis 1996; 17: 246-54.
    • (1996) Electrophoresis , vol.17 , pp. 246-254
    • Wood, N.1    Bidwell, J.2
  • 11
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 1991; 19: 5444.
    • (1991) Nucl Acids Res , vol.19 , pp. 5444
    • Lahiri, D.K.1    Nurnberger Jr., J.I.2
  • 12
    • 0021715168 scopus 로고
    • Expression of active human factor VIII from recombinant DNA clones
    • Wood WI, Capon DJ, Simonsen CC, et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 326-30.
    • (1984) Nature , vol.312 , pp. 326-330
    • Wood, W.I.1    Capon, D.J.2    Simonsen, C.C.3
  • 13
    • 0008890537 scopus 로고
    • Analysis of recombinant DNA clones
    • Maniatis T, ed. New York: Cold Spring Harbour Laboratory
    • Maniatis T, Fritsch EF, Sambrooke J. Analysis of recombinant DNA clones. In: Maniatis T, ed. Molecular Cloning, a Laboratory Manual. New York: Cold Spring Harbour Laboratory, 1982, 363-73.
    • (1982) Molecular Cloning, a Laboratory Manual , pp. 363-373
    • Maniatis, T.1    Fritsch, E.F.2    Sambrooke, J.3
  • 15
    • 0027476576 scopus 로고
    • Report of a joint WHO/WFH meeting on the control of haemophilia: Carrier detection and prenatal diagnosis
    • Peake IR, Lillicrap DP, Boulyjinkov V, et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagulation Fibrinolysis 1993; 4: 313-34.
    • (1993) Blood Coagulation Fibrinolysis , vol.4 , pp. 313-334
    • Peake, I.R.1    Lillicrap, D.P.2    Boulyjinkov, V.3
  • 16
    • 0022589996 scopus 로고
    • A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A
    • Wion KL, Tuddenham EGD, Lawn RM. A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A. Nucl Acids Res 1986; 14: 4535-42.
    • (1986) Nucl Acids Res , vol.14 , pp. 4535-4542
    • Wion, K.L.1    Tuddenham, E.G.D.2    Lawn, R.M.3
  • 17
    • 0022253004 scopus 로고
    • Haemophilia A. detection of molecular defects and of carriers by DNA analysis
    • Antonarakis SE, Waber PG, Kittur SD, et al. Haemophilia A. detection of molecular defects and of carriers by DNA analysis. New Engl J Med 1985; 313: 842-8.
    • (1985) New Engl J Med , vol.313 , pp. 842-848
    • Antonarakis, S.E.1    Waber, P.G.2    Kittur, S.D.3
  • 18
    • 0029929167 scopus 로고    scopus 로고
    • Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using 'virtual PCR' - A novel approach employing the polymerase chain reaction in the absence of sequence information for the locus
    • Bowen DJ, Hampton KK. Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using 'virtual PCR' - a novel approach employing the polymerase chain reaction in the absence of sequence information for the locus. Hum Genet 1996; 98: 219-22.
    • (1996) Hum Genet , vol.98 , pp. 219-222
    • Bowen, D.J.1    Hampton, K.K.2
  • 19
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian JH, Antonarakis S, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, J.H.2    Antonarakis, S.3    Gitschier, J.4
  • 20
    • 0031018764 scopus 로고    scopus 로고
    • Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators
    • Culpan D, Standen GR, Wood N, Mazurier C, Gaucher C, Bidwell J. Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators. Br J Haematol 1997; 96: 464-9.
    • (1997) Br J Haematol , vol.96 , pp. 464-469
    • Culpan, D.1    Standen, G.R.2    Wood, N.3    Mazurier, C.4    Gaucher, C.5    Bidwell, J.6
  • 21
    • 0028934945 scopus 로고
    • Rapid genotype analysis of type 2B von Willebrand's disease using a universal heteroduplex generator
    • Wood N, Standen GR, Murray EW, et al. Rapid genotype analysis of type 2B von Willebrand's disease using a universal heteroduplex generator. Br J Haematol 1995; 89: 152-6.
    • (1995) Br J Haematol , vol.89 , pp. 152-156
    • Wood, N.1    Standen, G.R.2    Murray, E.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.