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Volumn 38, Issue 11, 2005, Pages 987-996

Molecular analysis of unknown β-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with β-thalassemias and β-globin variants

Author keywords

thalassemias; Hb Tak; Hemoglobinopathies; Single strand conformation polymorphism (SSCP) analysis

Indexed keywords

BETA GLOBIN; GLYCEROL; HEMOGLOBIN VARIANT; POLYACRYLAMIDE GEL;

EID: 27744574280     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.07.013     Document Type: Article
Times cited : (23)

References (28)
  • 2
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemo-globin disorders: An increasing global health problem
    • D.J. Weatherall, and J.B. Clegg Inherited haemo-globin disorders: an increasing global health problem Bull. World Health Organ. 79 2001 704 712
    • (2001) Bull. World Health Organ. , vol.79 , pp. 704-712
    • Weatherall, D.J.1    Clegg, J.B.2
  • 3
    • 0007752751 scopus 로고    scopus 로고
    • Hemoglobinopathies in Southeast Asia: Molecular biology and clinical medicine
    • S. Fucharoen, and P. Winichagoon Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine Hemoglobin 21 1997 299 319
    • (1997) Hemoglobin , vol.21 , pp. 299-319
    • Fucharoen, S.1    Winichagoon, P.2
  • 5
    • 0034108075 scopus 로고    scopus 로고
    • Prenatal control of severe thalassaemia: Chiang Mai strategy
    • T. Tongsong, C. Wanapirak, and P. Sirivatanapa Prenatal control of severe thalassaemia: Chiang Mai strategy Prenat. Diagn. 20 2000 229 234
    • (2000) Prenat. Diagn. , vol.20 , pp. 229-234
    • Tongsong, T.1    Wanapirak, C.2    Sirivatanapa, P.3
  • 6
    • 0001916646 scopus 로고    scopus 로고
    • Molecular mechanisms of a thalassemia
    • R.L. Nagel Cambridge Univ. Press Cambridge, UK
    • D.R. Higgs Molecular mechanisms of a thalassemia R.L. Nagel Disorders of Hemoglobin 2001 Cambridge Univ. Press Cambridge, UK 405 430
    • (2001) Disorders of Hemoglobin , pp. 405-430
    • Higgs, D.R.1
  • 7
    • 0000844285 scopus 로고    scopus 로고
    • Molecular mechanisms of β thalassemia
    • R.L. Nagel Cambridge Univ. Press Cambridge UK
    • B.G. Forget Molecular mechanisms of β thalassemia R.L. Nagel Disorders of Hemoglobin 2001 Cambridge Univ. Press Cambridge UK 252 276
    • (2001) Disorders of Hemoglobin , pp. 252-276
    • Forget, B.G.1
  • 8
    • 0032020108 scopus 로고    scopus 로고
    • The beta- and delta-thalassemia repository (Ninth Edition; Part I)
    • T.H. Huisman, and M.F. Carver The beta- and delta-thalassemia repository (Ninth Edition; Part I) Hemoglobin 22 1998 169 195
    • (1998) Hemoglobin , vol.22 , pp. 169-195
    • Huisman, T.H.1    Carver, M.F.2
  • 10
    • 0032961041 scopus 로고    scopus 로고
    • Prenatal diagnosis of beta-thalassaemia by reverse dot-blot hybridization
    • P. Winichagoon, V. Saechan, and R. Sripanich Prenatal diagnosis of beta-thalassaemia by reverse dot-blot hybridization Prenat. Diagn. 19 1999 428 435
    • (1999) Prenat. Diagn. , vol.19 , pp. 428-435
    • Winichagoon, P.1    Saechan, V.2    Sripanich, R.3
  • 11
    • 0024829777 scopus 로고
    • Molecular basis of beta-thalassemia in Thailand: Analysis of beta-thalassemia mutations using the polymerase chain reaction
    • S. Fucharoen, G. Fucharoen, and W. Sriroongrueng Molecular basis of beta-thalassemia in Thailand: analysis of beta-thalassemia mutations using the polymerase chain reaction Hum. Genet. 84 1989 41 46
    • (1989) Hum. Genet. , vol.84 , pp. 41-46
    • Fucharoen, S.1    Fucharoen, G.2    Sriroongrueng, W.3
  • 12
    • 0024996741 scopus 로고
    • The molecular basis of beta-thalassemia in Thailand: Application to prenatal diagnosis
    • S.L. Thein, P. Winichagoon, and C. Hesketh The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis Am. J. Hum. Genet. 47 1990 369 375
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 369-375
    • Thein, S.L.1    Winichagoon, P.2    Hesketh, C.3
  • 14
    • 0025044804 scopus 로고
    • Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: Identification of one novel mutation using amplified DNA from buffy coat specimens
    • G. Fucharoen, S. Fucharoen, A. Jetsrisuparb, and Y. Fukumaki Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens Biochem. Biophys. Res. Commun. 170 1990 698 704
    • (1990) Biochem. Biophys. Res. Commun. , vol.170 , pp. 698-704
    • Fucharoen, G.1    Fucharoen, S.2    Jetsrisuparb, A.3    Fukumaki, Y.4
  • 15
    • 0025196438 scopus 로고
    • Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene
    • T. Sanguansermsri, M. Pape, M. Laig, J. Hundrieser, and G. Flatz Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene Hemoglobin 14 1990 157 168
    • (1990) Hemoglobin , vol.14 , pp. 157-168
    • Sanguansermsri, T.1    Pape, M.2    Laig, M.3    Hundrieser, J.4    Flatz, G.5
  • 16
    • 0025944913 scopus 로고
    • Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient
    • S. Fucharoen, G. Fucharoen, V. Laosombat, and Y. Fukumaki Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient Am. J. Hematol. 38 1991 142 144
    • (1991) Am. J. Hematol. , vol.38 , pp. 142-144
    • Fucharoen, S.1    Fucharoen, G.2    Laosombat, V.3    Fukumaki, Y.4
  • 17
    • 0025773678 scopus 로고
    • Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait
    • G. Fucharoen, S. Fuchareon, A. Jetsrisuparb, and Y. Fukumaki Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait Blood 78 1991 537 539
    • (1991) Blood , vol.78 , pp. 537-539
    • Fucharoen, G.1    Fuchareon, S.2    Jetsrisuparb, A.3    Fukumaki, Y.4
  • 18
    • 0026754589 scopus 로고
    • Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin e disease
    • P. Winichagoon, S. Fucharoen, P. Wilairat, K. Chihara, Y. Fukumaki, and P. Wasi Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease Biochim. Biophys. Acta 1139 1992 280 286
    • (1992) Biochim. Biophys. Acta , vol.1139 , pp. 280-286
    • Winichagoon, P.1    Fucharoen, S.2    Wilairat, P.3    Chihara, K.4    Fukumaki, Y.5    Wasi, P.6
  • 20
    • 0032890917 scopus 로고    scopus 로고
    • A novel 105 basepair deletion causing beta(0)-thalassemia in members of a Thai family
    • C. Nopparatana, V. Saechan, M. Pornpatkul, V. Panich, and Y. Fukumaki A novel 105 basepair deletion causing beta(0)-thalassemia in members of a Thai family Am. J. Hematol. 61 1999 1 4
    • (1999) Am. J. Hematol. , vol.61 , pp. 1-4
    • Nopparatana, C.1    Saechan, V.2    Pornpatkul, M.3    Panich, V.4    Fukumaki, Y.5
  • 21
    • 0001430252 scopus 로고
    • DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory
    • S.G. Fischer, and L.S. Lerman DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory Proc. Natl. Acad. Sci. U. S. A. 80 1983 1579 1583
    • (1983) Proc. Natl. Acad. Sci. U. S. A. , vol.80 , pp. 1579-1583
    • Fischer, S.G.1    Lerman, L.S.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
    • R.G. Cotton, N.R. Rodrigues, and R.D. Campbell 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. U. S. A. 85 1988 4397 4401
    • (1988) Proc. Natl. Acad. Sci. U. S. A. , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 23
    • 0026611384 scopus 로고
    • Dideoxy fingerprinting (ddE): A rapid and efficient screen for the presence of mutations
    • G. Sarkar, H.S. Yoon, and S.S. Sommer Dideoxy fingerprinting (ddE): a rapid and efficient screen for the presence of mutations Genomics 13 1992 441 443
    • (1992) Genomics , vol.13 , pp. 441-443
    • Sarkar, G.1    Yoon, H.S.2    Sommer, S.S.3
  • 24
    • 0031001726 scopus 로고    scopus 로고
    • Temperature-programmed capillary electrophoresis for the analysis of high-melting point mutants in thalassemias
    • C. Gelfi, P.G. Righetti, M. Travi, and F. Fattore Temperature-programmed capillary electrophoresis for the analysis of high-melting point mutants in thalassemias Electrophoresis 18 5 1997 724 731
    • (1997) Electrophoresis , vol.18 , Issue.5 , pp. 724-731
    • Gelfi, C.1    Righetti, P.G.2    Travi, M.3    Fattore, F.4
  • 25
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • M. Orita, H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc. Natl. Acad. Sci. U. S. A. 86 1989 2766 2770
    • (1989) Proc. Natl. Acad. Sci. U. S. A. , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 26
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • K. Hayashi, and D.W. Yandell How sensitive is PCR-SSCP? Hum. Mutat. 2 1993 338 346
    • (1993) Hum. Mutat. , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 27
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • D. Glavac, and M. Dean Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations Hum. Mutat. 2 1993 404 414
    • (1993) Hum. Mutat. , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.