메뉴 건너뛰기




Volumn 4, Issue 4, 1998, Pages 358-364

Advances in carrier detection in haemophilia

Author keywords

Carrier detection; Dinucleotide repeat; Haemophilia; Mutation; Polymorphism; RFLP

Indexed keywords

CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; HEMOPHILIA; HETEROZYGOTE DETECTION; HUMAN; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL; SCREENING;

EID: 0031876987     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.1998.440358.x     Document Type: Conference Paper
Times cited : (20)

References (44)
  • 1
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe haemophilia A-results of an international consortium study
    • Antonarakis SS and a consortium of 65 international authors. Factor VIII gene inversions in severe haemophilia A-results of an international consortium study. Blood 1995; 86: 2206-12.
    • (1995) Blood , vol.86 , pp. 2206-2212
    • Antonarakis, S.S.1
  • 2
    • 0031915612 scopus 로고    scopus 로고
    • Laboratory methods for the genetic diagnosis of bleeding disorders
    • in press
    • Goodeve AC. Laboratory methods for the genetic diagnosis of bleeding disorders. Clin Lab Haematol; in press.
    • Clin Lab Haematol
    • Goodeve, A.C.1
  • 3
    • 0025822844 scopus 로고
    • Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the human factor VIII gene
    • Lalloz MRA, McVey JH, Pattinson JK, Michaelides K, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the human 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    Michaelides, K.4    Tuddenham, E.G.D.5
  • 4
    • 0028241031 scopus 로고
    • Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
    • Lalloz MRA, Schwaab R, McVey JH, Michaelides K, Tuddenham EGD. Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Haematol 1994; 86: 804-9.
    • (1994) Br J Haematol , vol.86 , pp. 804-809
    • Lalloz, M.R.A.1    Schwaab, R.2    McVey, J.H.3    Michaelides, K.4    Tuddenham, E.G.D.5
  • 5
    • 0002296851 scopus 로고    scopus 로고
    • Diagnosis of haemophilia A carriers and prenatal diagnosis
    • Forbes CD, Aledort L, Madhok R, eds. London: Chapman & Hall
    • Goodeve AC, Peake IR. Diagnosis of haemophilia A carriers and prenatal diagnosis. In: Forbes CD, Aledort L, Madhok R, eds. Hemophilia. London: Chapman & Hall, 1997, 63-74.
    • (1997) Hemophilia , pp. 63-74
    • Goodeve, A.C.1    Peake, I.R.2
  • 6
    • 0028978352 scopus 로고
    • Nonradioactive detection of hypervariable simple repeats in short polyacrylamide gels
    • Morin PA, Smith DG. Nonradioactive detection of hypervariable simple repeats in short polyacrylamide gels. Biotechniques 1995; 19: 223-338.
    • (1995) Biotechniques , vol.19 , pp. 223-338
    • Morin, P.A.1    Smith, D.G.2
  • 7
    • 0029847877 scopus 로고    scopus 로고
    • Rapid, cost effective analysis of factor VIII gene DNA polymorphisms utilising silver staining
    • Goodeve AC, Preston FE, Peake IR. Rapid, cost effective analysis of factor VIII gene DNA polymorphisms utilising silver staining. Blood Coag Fibrinol 1996; 7: 672-7.
    • (1996) Blood Coag Fibrinol , vol.7 , pp. 672-677
    • Goodeve, A.C.1    Preston, F.E.2    Peake, I.R.3
  • 8
    • 0027931511 scopus 로고
    • Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles
    • Kochhan L, Lalloz MRA, Oldenburg J, Mcvey JH, Olek K, Brackmann HH, et al. Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles. Blood Coag Fibrinol 1994; 5: 479-501.
    • (1994) Blood Coag Fibrinol , vol.5 , pp. 479-501
    • Kochhan, L.1    Lalloz, M.R.A.2    Oldenburg, J.3    Mcvey, J.H.4    Olek, K.5    Brackmann, H.H.6
  • 10
    • 0027476576 scopus 로고
    • Report of a joint WHO/WFH meeting on the control of haemophilia: Carrier detection and prenatal diagnosis
    • Peake IR, Lillicrap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coag Fibrinol 1993; 4: 313-44.
    • (1993) Blood Coag Fibrinol , vol.4 , pp. 313-344
    • Peake, I.R.1    Lillicrap, D.P.2    Boulyjenkov, V.3    Briet, E.4    Chan, V.5    Ginter, E.K.6
  • 11
    • 0028365906 scopus 로고
    • Analysis of factor VIII polymorphisms in Brazilian blacks reveals further differences in the black population
    • Da Suva WA, Figueiredo MS. Analysis of factor VIII polymorphisms in Brazilian blacks reveals further differences in the black population. Hum Hered 1994; 44: 252-60.
    • (1994) Hum Hered , vol.44 , pp. 252-260
    • Da Suva, W.A.1    Figueiredo, M.S.2
  • 12
    • 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. Nucleic Acids Res 1986; 14: 4535-42.
    • (1986) Nucleic Acids Res , vol.14 , pp. 4535-4542
    • Wion, K.L.1    Tuddenham, E.G.D.2    Lawn, R.M.3
  • 13
    • 0000931490 scopus 로고
    • Genetic prediction of haemophilia A
    • Innis MA, Gelfand DH, Sninsky JJ, White JJ, eds. San Diego: Academic Press
    • Kogan SC, Gitschier J. Genetic prediction of haemophilia A. In: Innis MA, Gelfand DH, Sninsky JJ, White JJ, eds. PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, 1990.
    • (1990) PCR Protocols: A Guide to Methods and Applications
    • Kogan, S.C.1    Gitschier, J.2
  • 15
    • 0028074245 scopus 로고
    • Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Dde I alleles
    • Figueiredo MS, Bowen DJ, Silva WA, Zago MA. Factor IX gene haplotypes in Brazilian Blacks and characterization of unusual Dde I alleles. Br J Haematol 1994; 87: 789-96.
    • (1994) Br J Haematol , vol.87 , pp. 789-796
    • Figueiredo, M.S.1    Bowen, D.J.2    Silva, W.A.3    Zago, M.A.4
  • 16
    • 0027207410 scopus 로고
    • An Mse I RFLP in the 5′ flanking region of the factor IX gene: Its use for haemophilia B carrier detection in Caucasian and Thai populations
    • Winship PR, Nichols CE, Chuansumrit A, Peake IR. An Mse I RFLP in the 5′ flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations. Br J Haematol 1993; 84: 101-5.
    • (1993) Br J Haematol , vol.84 , pp. 101-105
    • Winship, P.R.1    Nichols, C.E.2    Chuansumrit, A.3    Peake, I.R.4
  • 17
    • 0028810202 scopus 로고
    • Diagnosis of haemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects
    • Toyozumi H, Kojima T, Matsushita T, Hamaguchi M, Tanimoto M, Saito H. Diagnosis of haemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects. Thromb Haemost 1995; 74: 1009-14.
    • (1995) Thromb Haemost , vol.74 , pp. 1009-1014
    • Toyozumi, H.1    Kojima, T.2    Matsushita, T.3    Hamaguchi, M.4    Tanimoto, M.5    Saito, H.6
  • 18
    • 0023235793 scopus 로고
    • Haemophilia A: Carrier detection and prenatal diagnosis by linkage analysis using DNA polymorphism
    • Tuddenham FGD, Goldman E, McGraw A, Kernoff PBA. Haemophilia A: carrier detection and prenatal diagnosis by linkage analysis using DNA polymorphism. J Clin Pathol 1987; 40: 971-7.
    • (1987) J Clin Pathol , vol.40 , pp. 971-977
    • Tuddenham, F.G.D.1    Goldman, E.2    McGraw, A.3    Kernoff, P.B.A.4
  • 19
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A
    • Lakich D, Kazazian H, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A. Nature Genet 1993; 5: 236-41.
    • (1993) Nature Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 20
    • 0028932896 scopus 로고
    • Characterisation of FVIII gene inversion using a non-radioactive detection method: A survey of 102 unrelated haemophilia A families from Northern France
    • Gaucher C, Mazurier C. Characterisation of FVIII gene inversion using a non-radioactive detection method: a survey of 102 unrelated haemophilia A families from Northern France. Nouv Rev Fr Haematol 1995; 37: 131-6.
    • (1995) Nouv Rev Fr Haematol , vol.37 , pp. 131-136
    • Gaucher, C.1    Mazurier, C.2
  • 22
    • 0024021305 scopus 로고
    • Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton RG, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 1988; 85: 4397-401.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 23
    • 0024605060 scopus 로고
    • Direct detection of point mutations by mismatch analysis: Application to haemophilia B
    • Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucl Acids Res 1989; 17: 3347-58.
    • (1989) Nucl Acids Res , vol.17 , pp. 3347-3358
    • Montandon, A.J.1    Green, P.M.2    Giannelli, F.3    Bentley, D.R.4
  • 24
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of haemophilia A
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of haemophilia A. Lancet 1992; 340: 1066-7.
    • (1992) Lancet , vol.340 , pp. 1066-1067
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 25
    • 0029593548 scopus 로고
    • Ultrarapid mutation detection by multiplex, solid phase chemical cleavage
    • Rowley G, Saad S, Giannelli F, Green PM. Ultrarapid mutation detection by multiplex, solid phase chemical cleavage. Genomics 1995; 30: 574-82.
    • (1995) Genomics , vol.30 , pp. 574-582
    • Rowley, G.1    Saad, S.2    Giannelli, F.3    Green, P.M.4
  • 26
    • 7344236719 scopus 로고    scopus 로고
    • Mutational analysis of factor VIII transcripts in haemophilia A patients
    • Wassem NH, Bagnall R, Green PM, Giannelli F, & Haemophilia Centres. Mutational analysis of factor VIII transcripts in haemophilia A patients. Thromb Haemost 1997; Supplement PS 929.
    • (1997) Thromb Haemost , Issue.SUPPL. PS , pp. 929
    • Wassem, N.H.1    Bagnall, R.2    Green, P.M.3    Giannelli, F.4
  • 27
    • 0027433113 scopus 로고
    • Conformation sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ. Conformation sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 28
    • 85087235981 scopus 로고    scopus 로고
    • Precise carrier and prenatal diagnosis in families with haemophilia A: Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis
    • in press
    • Williams IJ, Abuzenadah A, Winship P, Preston FE, Dolan G, Wright J, et al. Precise carrier and prenatal diagnosis in families with haemophilia A: Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis. Thromb Haemost; in press.
    • Thromb Haemost
    • Williams, I.J.1    Abuzenadah, A.2    Winship, P.3    Preston, F.E.4    Dolan, G.5    Wright, J.6
  • 29
    • 0001430252 scopus 로고
    • DNA fragments differing by single base substitutions are separated in denaturing gradient gels: Correspondance with melting theory
    • Fischer SG, Lerman LS. DNA fragments differing by single base substitutions are separated in denaturing gradient gels: correspondance with melting theory. Proc Natl Acad Sci USA 1983; 80: 1579-83.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 1579-1583
    • Fischer, S.G.1    Lerman, L.S.2
  • 30
    • 0027169164 scopus 로고
    • Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gel electrophoresis
    • Tartary M, Vidaud D, Piao Y, Costa JM, Bahnak BR, Fressinaud E, et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gel electrophoresis. Br J Haematol 1993; 84: 662-9.
    • (1993) Br J Haematol , vol.84 , pp. 662-669
    • Tartary, M.1    Vidaud, D.2    Piao, Y.3    Costa, J.M.4    Bahnak, B.R.5    Fressinaud, E.6
  • 31
    • 0028887059 scopus 로고
    • Characterization of mutations within the FVIII gene of 73 unrelated mild and moderate haemophiliacs
    • Schwaab R, Oldenburg J, Schwaab U, Johnson DJD, Schmidt W, Olek K, et al. Characterization of mutations within the FVIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995; 91: 458-64.
    • (1995) Br J Haematol , vol.91 , pp. 458-464
    • Schwaab, R.1    Oldenburg, J.2    Schwaab, U.3    Johnson, D.J.D.4    Schmidt, W.5    Olek, K.6
  • 33
    • 0025269309 scopus 로고
    • Detecting base pair substitutions in DNA fragments by temperature-gradient gel-electrophoresis
    • Wartell RM, Hosseini SH, Moran CP. Detecting base pair substitutions in DNA fragments by temperature-gradient gel-electrophoresis. Nucleic Acids Res 1990; 18: 2699-705.
    • (1990) Nucleic Acids Res , vol.18 , pp. 2699-2705
    • Wartell, R.M.1    Hosseini, S.H.2    Moran, C.P.3
  • 34
    • 7344264514 scopus 로고
    • Genetic-analysis of congenital ATIII deficiencies by polymerase chain reaction-temperature-gradient gel-electrophoresis (PCR-TGGE)
    • Masuda H, Tsuji H, Nakagawa K, Yamada K, Yamada Y, Takada O, et al. Genetic-analysis of congenital ATIII deficiencies by polymerase chain reaction-temperature-gradient gel-electrophoresis (PCR-TGGE). Thromb Haemost 1993; 69: 1297.
    • (1993) Thromb Haemost , vol.69 , pp. 1297
    • Masuda, H.1    Tsuji, H.2    Nakagawa, K.3    Yamada, K.4    Yamada, Y.5    Takada, O.6
  • 36
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H. et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-70.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 37
    • 0027383826 scopus 로고
    • Single strand conformation polymorphism (SSCP) analysis of the molecular pathology of haemophilia B
    • David D, Rosa HAV, Pemberton S, Diniz MJ, Campos M, Lavinha J. Single strand conformation polymorphism (SSCP) analysis of the molecular pathology of haemophilia B. Human Mutation 1993; 2: 355-61.
    • (1993) Human Mutation , vol.2 , pp. 355-361
    • David, D.1    Rosa, H.A.V.2    Pemberton, S.3    Diniz, M.J.4    Campos, M.5    Lavinha, J.6
  • 39
    • 0030992602 scopus 로고    scopus 로고
    • Detection of mutations in multiexon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
    • Ganguly A, Williams C. Detection of mutations in multiexon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations. Human Mutation 1997; 9: 339-43.
    • (1997) Human Mutation , vol.9 , pp. 339-343
    • Ganguly, A.1    Williams, C.2
  • 42
    • 0030860224 scopus 로고    scopus 로고
    • The factor VIII mutation database on the world wide web: The haemophilia A mutation, search, test and resource site-HAMSTeRS update (version 3.0)
    • Kemball-Cook G, Tuddenham EGD. The factor VIII mutation database on the world wide web: The haemophilia A mutation, search, test and resource site-HAMSTeRS update (version 3.0). Nucl Acids Res 1997; 25: 128-32. URL: http:// europium.mrc.rpms.ac.uk
    • (1997) Nucl Acids Res , vol.25 , pp. 128-132
    • Kemball-Cook, G.1    Tuddenham, E.G.D.2
  • 44
    • 0030911924 scopus 로고
    • Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients
    • Dangerfield BTF, Manga P, Field SP, Hartman E, Jenkins T. Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients. Br J Haematol 1994; 97: 558-60.
    • (1994) Br J Haematol , vol.97 , pp. 558-560
    • Dangerfield, B.T.F.1    Manga, P.2    Field, S.P.3    Hartman, E.4    Jenkins, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.