메뉴 건너뛰기




Volumn 16, Issue 3, 2010, Pages 538-544

Genetic analysis of haemophilia A in Taiwan

Author keywords

DHPLC; Factor VIII gene; Haemophilia A; Intron 1 inversion; Intron 22 inversion; Reverse transcript PCR

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR;

EID: 77953603802     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02180.x     Document Type: Article
Times cited : (22)

References (37)
  • 1
    • 77953599743 scopus 로고
    • Book reviews: the molecular genetics of haemostasis and its inherited disorders
    • Tuddenham E, Cooper D. Book reviews: the molecular genetics of haemostasis and its inherited disorders. Br J Haematol 1995, 90:234.
    • (1995) Br J Haematol , vol.90 , pp. 234
    • Tuddenham, E.1    Cooper, D.2
  • 2
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM. Characterization 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
  • 4
    • 0014072767 scopus 로고
    • A semi-automatic one-stage factor 8 assay with a commercially prepared standard
    • Simone JV, Vanderheiden J, Abildgaard CF. A semi-automatic one-stage factor 8 assay with a commercially prepared standard. J Lab Clin Med 1967, 69:706-12.
    • (1967) J Lab Clin Med , vol.69 , pp. 706-712
    • Simone, J.V.1    Vanderheiden, J.2    Abildgaard, C.F.3
  • 5
    • 0032431385 scopus 로고    scopus 로고
    • Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content application to the inversion hotspot in the factor VII gene
    • Liu Q, Sommer SS. Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content application to the inversion hotspot in the factor VII gene. Bio Techniques 1998, 25:1022-8.
    • (1998) Bio Techniques , vol.25 , pp. 1022-1028
    • Liu, Q.1    Sommer, S.S.2
  • 6
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot mutation in hemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot mutation in hemophilia A. Blood 1998, 92:1458-9.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 7
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem, Green PM. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002, 99:168-74.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, T.2    Green, P.M.3
  • 8
    • 0029865410 scopus 로고    scopus 로고
    • Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type dependent sex ratio of mutation frequencies
    • Becker J, Schwaab R, Möller-Taube A. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type dependent sex ratio of mutation frequencies. Am J Hum Genet 1996, 58:657-70.
    • (1996) Am J Hum Genet , vol.58 , pp. 657-670
    • Becker, J.1    Schwaab, R.2    Möller-Taube, A.3
  • 9
    • 0028887059 scopus 로고
    • Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs
    • Schwaab R, Oldenburg J, Schwaab U. Characterization of mutations within the factor VIII 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
  • 11
    • 14344258535 scopus 로고    scopus 로고
    • Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A
    • Ahmed RPH, Ivaskevicius V, Kannan M. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica 2005, 90:283-4.
    • (2005) Haematologica , vol.90 , pp. 283-284
    • Ahmed, R.P.H.1    Ivaskevicius, V.2    Kannan, M.3
  • 12
    • 0000520709 scopus 로고
    • Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC)
    • Oefner PJ, Underhill PA. Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet 1995, 57:A266.
    • (1995) Am J Hum Genet , vol.57
    • Oefner, P.J.1    Underhill, P.A.2
  • 13
    • 0003391162 scopus 로고    scopus 로고
    • DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
    • Oefner PJ, Underhill PA. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr Protoc Hum Genet 1998, 19:7101-12.
    • (1998) Curr Protoc Hum Genet , vol.19 , pp. 7101-7112
    • Oefner, P.J.1    Underhill, P.A.2
  • 14
    • 0028977985 scopus 로고
    • Cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene
    • Figuereido MS, Brownlee GG. Cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene. J Biol Chem 1995, 270:11828-36.
    • (1995) J Biol Chem , vol.270 , pp. 11828-11836
    • Figuereido, M.S.1    Brownlee, G.G.2
  • 15
    • 33845957929 scopus 로고    scopus 로고
    • Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A
    • Bogdanova N, Markoff A, Eisert R. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat 2007, 28:54-60.
    • (2007) Hum Mutat , vol.28 , pp. 54-60
    • Bogdanova, N.1    Markoff, A.2    Eisert, R.3
  • 16
    • 19544372311 scopus 로고    scopus 로고
    • Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene
    • El-Maarri O, Herbiniaux U, Graw J. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J Thromb Haemost 2005, 3:332-9.
    • (2005) J Thromb Haemost , vol.3 , pp. 332-339
    • El-Maarri, O.1    Herbiniaux, U.2    Graw, J.3
  • 17
    • 77953568455 scopus 로고    scopus 로고
    • Genotyping study of French hemophilia A patients treated with Refacto
    • Vinciguerra C. Genotyping study of French hemophilia A patients treated with Refacto. Hemophilia 2004, 10(Suppl. 3):78.
    • (2004) Hemophilia , vol.10 , Issue.SUPPL 3 , pp. 78
    • Vinciguerra, C.1
  • 18
    • 16344362284 scopus 로고    scopus 로고
    • Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype
    • Hill M, Deam S, Gordon B. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia 2005, 11:133-41.
    • (2005) Haemophilia , vol.11 , pp. 133-141
    • Hill, M.1    Deam, S.2    Gordon, B.3
  • 19
    • 24644437294 scopus 로고    scopus 로고
    • Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
    • Jayandharan G, Shaji RV, Baidya S. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia 2005, 11:481-91.
    • (2005) Haemophilia , vol.11 , pp. 481-491
    • Jayandharan, G.1    Shaji, R.V.2    Baidya, S.3
  • 20
    • 34248572203 scopus 로고    scopus 로고
    • Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients
    • Han JY, Lee JN, Lee SY. Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients. Haemophilia 2007, 13:331-3.
    • (2007) Haemophilia , vol.13 , pp. 331-333
    • Han, J.Y.1    Lee, J.N.2    Lee, S.Y.3
  • 21
    • 34250727983 scopus 로고    scopus 로고
    • Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development
    • Repesse Y, Slaoui M, Ferrandiz D. Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. J Thromb Haemost 2007, 5:1469-76.
    • (2007) J Thromb Haemost , vol.5 , pp. 1469-1476
    • Repesse, Y.1    Slaoui, M.2    Ferrandiz, D.3
  • 22
    • 47649084032 scopus 로고    scopus 로고
    • Molecular analysis of F8 in Lebanese haemophilia A patients novel mutations and phenotype genotype correlation
    • Djambas Khayat C, Salem N, Chouery E. Molecular analysis of F8 in Lebanese haemophilia A patients novel mutations and phenotype genotype correlation. Haemophilia 2008, 14:709-16.
    • (2008) Haemophilia , vol.14 , pp. 709-716
    • Djambas Khayat, C.1    Salem, N.2    Chouery, E.3
  • 23
    • 0028849994 scopus 로고
    • Genetic diagnosis of hemophilia A of Chinese origin
    • Lin SR, Chang SC, Lee CC. Genetic diagnosis of hemophilia A of Chinese origin. British J Haemotol 1995, 91:722-7.
    • (1995) British J Haemotol , vol.91 , pp. 722-727
    • Lin, S.R.1    Chang, S.C.2    Lee, C.C.3
  • 24
    • 0242575088 scopus 로고    scopus 로고
    • Rapid detection of intron 22 inversions of the factor VIII gene in Chinese patients with severe hemophilia A
    • Gau JP, Hsu HC, Ho CH. Rapid detection of intron 22 inversions of the factor VIII gene in Chinese patients with severe hemophilia A. J Chin Med Assoc 2003, 66:518-22.
    • (2003) J Chin Med Assoc , vol.66 , pp. 518-522
    • Gau, J.P.1    Hsu, H.C.2    Ho, C.H.3
  • 25
    • 77953052321 scopus 로고    scopus 로고
    • Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A (text in Chinese)
    • Li T, Dai J, Wu JS. Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A (text in Chinese). Zhonghonghua Xue Ye Xue Za Zhi 2009, 30:150-3.
    • (2009) Zhonghonghua Xue Ye Xue Za Zhi , vol.30 , pp. 150-153
    • Li, T.1    Dai, J.2    Wu, J.S.3
  • 26
    • 2442532009 scopus 로고    scopus 로고
    • Inversions of the factor VIII gene in Japanese patients with severe hemophilia A
    • Kazuyoshi F, Hiroyuki N, Shogo M. Inversions of the factor VIII gene in Japanese patients with severe hemophilia A. Int J Hematol 2004, 79:303-6.
    • (2004) Int J Hematol , vol.79 , pp. 303-306
    • Kazuyoshi, F.1    Hiroyuki, N.2    Shogo, M.3
  • 27
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of hemophilia A
    • Naylor JA, Green PM, Rizza CR. Factor VIII gene explains all cases of hemophilia 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
  • 28
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A
    • Lakich D, Kazazian H, Antonarakis SE. Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nat Genet 1993, 5:236-41.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.2    Antonarakis, S.E.3
  • 29
    • 0027932694 scopus 로고
    • Analysis of intron 22 inversion of the factor VIII gene in severe hemophilia A: implication for the genetic counseling
    • Jenkins PV, Goldman CE, MccCraw A. Analysis of intron 22 inversion of the factor VIII gene in severe hemophilia A: implication for the genetic counseling. Blood 1994, 84:2197-201.
    • (1994) Blood , vol.84 , pp. 2197-2201
    • Jenkins, P.V.1    Goldman, C.E.2    MccCraw, A.3
  • 30
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: result of an international consortium study
    • Antonarakis SE, Rossiter JP, Young M. Factor VIII gene inversions in severe hemophilia A: result of an international consortium study. Blood 1995, 86:2206-12.
    • (1995) Blood , vol.86 , pp. 2206-2212
    • Antonarakis, S.E.1    Rossiter, J.P.2    Young, M.3
  • 31
    • 5644291818 scopus 로고    scopus 로고
    • Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature
    • Rossetti LC, Candela M, Bianco RP. Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature. Blood Coagul Fibrinolysis 2004, 15:569-72.
    • (2004) Blood Coagul Fibrinolysis , vol.15 , pp. 569-572
    • Rossetti, L.C.1    Candela, M.2    Bianco, R.P.3
  • 32
    • 0036249147 scopus 로고    scopus 로고
    • Inhibitor development in correlation to factor VIII genotype
    • Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation to factor VIII genotype. Haemophilia 2002, 8(Suppl. 2):23-9.
    • (2002) Haemophilia , vol.8 , Issue.SUPPL 2 , pp. 23-29
    • Oldenburg, J.1    El-Maarri, O.2    Schwaab, R.3
  • 33
    • 16344393521 scopus 로고    scopus 로고
    • Prophylactic treatment effects on inhibitor risk: experience in one center
    • Morado M, Villar V, Yuste J. Prophylactic treatment effects on inhibitor risk: experience in one center. Haemophilia 2005, 11:79-83.
    • (2005) Haemophilia , vol.11 , pp. 79-83
    • Morado, M.1    Villar, V.2    Yuste, J.3
  • 34
    • 0027319588 scopus 로고
    • Biochemical, immunological, and in vivo function characterization of B-domain-deleted factor VIII
    • Pittman DD, Alderman EM, Tomkinson KN. Biochemical, immunological, and in vivo function characterization of B-domain-deleted factor VIII. Blood 1993, 81:2925-35.
    • (1993) Blood , vol.81 , pp. 2925-2935
    • Pittman, D.D.1    Alderman, E.M.2    Tomkinson, K.N.3
  • 35
    • 34247330151 scopus 로고    scopus 로고
    • A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels
    • Kevin RV, Deepa KM, Diane MW. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood 2007, 109:3713-24.
    • (2007) Blood , vol.109 , pp. 3713-3724
    • Kevin, R.V.1    Deepa, K.M.2    Diane, M.W.3
  • 36
    • 0034672155 scopus 로고    scopus 로고
    • Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
    • Favier R, Lavergne JM, Costa JM. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000, 96:4373-5.
    • (2000) Blood , vol.96 , pp. 4373-4375
    • Favier, R.1    Lavergne, J.M.2    Costa, J.M.3
  • 37
    • 57149090733 scopus 로고    scopus 로고
    • Molecular genetic testing of hemophilia A
    • Goodeve A. Molecular genetic testing of hemophilia A. Semin Thromb Hemost 2008, 34:491-501.
    • (2008) Semin Thromb Hemost , vol.34 , pp. 491-501
    • Goodeve, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.