메뉴 건너뛰기




Volumn 4, Issue 3, 2004, Pages 142-147

Molecular defects in the β-globin gene identified in different ethnic groups/populations during prenatal diagnosis for β-thalassemia: A Malaysian experience

Author keywords

mutations; thalassemia; DNA amplification Ethnic groups; Prenatal diagnosis

Indexed keywords

HEMOGLOBIN E; POLYADENYLIC ACID;

EID: 19944428855     PISSN: 15918890     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10238-004-0048-x     Document Type: Article
Times cited : (36)

References (22)
  • 3
    • 84923345168 scopus 로고
    • Abnormal hemoglobins, thalassemia and erythrocyte glucose-6-phosphate dehydrogenase deficiency in Singapore and Malaya
    • Vella F (1962) Abnormal hemoglobins, thalassemia and erythrocyte glucose-6-phosphate dehydrogenase deficiency in Singapore and Malaya. Oceania 32:19-23
    • (1962) Oceania , vol.32 , pp. 19-23
    • Vella, F.1
  • 4
    • 0035320886 scopus 로고    scopus 로고
    • Phenotype-genotype relationships in monogenic disease: Lesson from the thalassemia
    • Weatherall D (2001) Phenotype-genotype relationships in monogenic disease: lesson from the thalassemia. Nat Rev Genet 2:245-255
    • (2001) Nat Rev Genet , vol.2 , pp. 245-255
    • Weatherall, D.1
  • 5
    • 0027939006 scopus 로고
    • The Amplification Refactory Mutation System (ARMS): A rapid and direct prenatal diagnostic technique for β-thalassemia in Singapore
    • Tan JAMA, Tay JSH, Lin LI, Kham SKY, Chia JN, Chin TM, Norkamar, Abd. Aziz, Wong HB (1994) The Amplification Refactory Mutation System (ARMS): a rapid and direct prenatal diagnostic technique for β-thalassemia in Singapore. Prenat Diagn 14:1077-1082
    • (1994) Prenat Diagn , vol.14 , pp. 1077-1082
    • Tan, J.A.M.A.1    Tay, J.S.H.2    Lin, L.I.3    Kham, S.K.Y.4    Chia, J.N.5    Chin, T.M.6    Norkamar7    Abd Aziz8    Wong, H.B.9
  • 8
    • 0026552304 scopus 로고
    • Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia
    • George L, Li HJ, Fe YJ, Reese Al, Baysal E, Cepreganova B, et al (1992) Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia. Hemoglobin 16:51-66
    • (1992) Hemoglobin , vol.16 , pp. 51-66
    • George, L.1    Li, H.J.2    Fe, Y.J.3    Reese, Al.4    Baysal, E.5    Cepreganova, B.6
  • 9
    • 0025090944 scopus 로고
    • Rapid detection and prenatal diagnosis of β-thalassemia: Studies in India and Cypriot populations in the UK
    • Old JM, Varawalla NY, Weatherall DJ (1990) Rapid detection and prenatal diagnosis of β-thalassemia: studies in India and Cypriot populations in the UK. Lancet 11:834-837
    • (1990) Lancet , vol.11 , pp. 834-837
    • Old, J.M.1    Varawalla, N.Y.2    Weatherall, D.J.3
  • 10
    • 0005306387 scopus 로고    scopus 로고
    • The use of the Amplification Refractory Mutation System (ARMS) as an effective and economical tool for prenatal diagnosis of β-thalassemia in Malaysian subjects
    • Tan JAMA, Yap SF, Tan KL, Thong MK (1998) The use of the Amplification Refractory Mutation System (ARMS) as an effective and economical tool for prenatal diagnosis of β-thalassemia in Malaysian subjects. Int Med Res J 2:65-68
    • (1998) Int Med Res J , vol.2 , pp. 65-68
    • Tan, J.A.M.A.1    Yap, S.F.2    Tan, K.L.3    Thong, M.K.4
  • 11
    • 0035747894 scopus 로고    scopus 로고
    • The use of the Amplification Refractory Mutation System (ARMS) in the detection of rare β-thalassemia mutations in the Malays and Chinese in Malaysia
    • Chan YF, Tan KL, Wong YC, Wee YC, Yap SF, Tan JAMA 2002 The use of the Amplification Refractory Mutation System (ARMS) in the detection of rare β-thalassemia mutations in the Malays and Chinese in Malaysia. Southeast Asian J Trop Med Public Health 32:872-879
    • (2002) Southeast Asian J Trop Med Public Health , vol.32 , pp. 872-879
    • Chan, Y.F.1    Tan, K.L.2    Wong, Y.C.3    Wee, Y.C.4    Yap, S.F.5    Tan, J.A.M.A.6
  • 12
    • 0027563723 scopus 로고
    • Filipino β° thalassemia: A high Hb A2 β° thalassemia resulting from a large deletion of the 5′ β-globin gene region
    • Motum PI, Kearney A, Hamilton TJ, Trent R (1993) Filipino β° thalassemia: a high Hb A2 β° thalassemia resulting from a large deletion of the 5′ β-globin gene region. J Med Genet 30:240-244
    • (1993) J Med Genet , vol.30 , pp. 240-244
    • Motum, P.I.1    Kearney, A.2    Hamilton, T.J.3    Trent, R.4
  • 13
    • 0027434133 scopus 로고
    • Identification of two novel β° thalassemia mutations in a Filipino family: Frameshift codon 67 (-TG) and a β-globin gene deletion
    • Eng B, Chui DHK, Saunderson J, Olivieri NF, Wayne JS (1993) Identification of two novel β° thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a β-globin gene deletion. Hum Mutat 2:375-379
    • (1993) Hum Mutat , vol.2 , pp. 375-379
    • Eng, B.1    Chui, D.H.K.2    Saunderson, J.3    Olivieri, N.F.4    Wayne, J.S.5
  • 14
    • 0028214609 scopus 로고
    • Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
    • Craig JE, Barnetson RA, Prior J, Raven JR, Thein SL (1994) Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 83:1673-1682
    • (1994) Blood , vol.83 , pp. 1673-1682
    • Craig, J.E.1    Barnetson, R.A.2    Prior, J.3    Raven, J.R.4    Thein, S.L.5
  • 17
    • 0023785130 scopus 로고
    • A new amber in a β-thalassemia gene with non-measurable levels of mutant mRNA in vivo
    • Atweh GF, Brickner HE, Zhu XX et al (1985) A new amber in a β-thalassemia gene with non-measurable levels of mutant mRNA in vivo. J Clin Invest 82:557-561
    • (1985) J Clin Invest , vol.82 , pp. 557-561
    • Atweh, G.F.1    Brickner, H.E.2    Zhu, X.X.3
  • 18
    • 0025296040 scopus 로고
    • The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990
    • Kazazian HH Jr (1990) The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 27:209-228
    • (1990) Semin Hematol , vol.27 , pp. 209-228
    • Kazazian Jr., H.H.1
  • 19
    • 0019949838 scopus 로고
    • Linkage of β-thalassaemic mutations and β-globin gene polymorphisms with DNA polymorphisms in the human β-globin gene cluster
    • Orkin SH, Kazazian HH Jr, Antonarakis SE et al (1982) Linkage of β-thalassaemic mutations and β-globin gene polymorphisms with DNA polymorphisms in the human β-globin gene cluster. Nature 296:627-631
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3
  • 20
    • 0031972656 scopus 로고    scopus 로고
    • Beta-thalassemia intermedia: Is it possible consistently to predict phenotypes from genotypes
    • Ho PJ, Hall GW, Luo, LY, Weathersll DJ, Thein SL (1998) Beta-thalassemia intermedia: is it possible consistently to predict phenotypes from genotypes. Br J Hematol 100:70-78
    • (1998) Br J Hematol , vol.100 , pp. 70-78
    • Ho, P.J.1    Hall, G.W.2    Luo, L.Y.3    Weathersll, D.J.4    Thein, S.L.5
  • 21
    • 0029448316 scopus 로고
    • The clinical severity of beta-thalassemia mutations in West Malaysia
    • George E (1995) The clinical severity of beta-thalassemia mutations in West Malaysia. Southeast Asian J Trop Med Public Health 26:225-228
    • (1995) Southeast Asian J Trop Med Public Health , vol.26 , pp. 225-228
    • George, E.1
  • 22
    • 0023698235 scopus 로고
    • Molecular characterization of β-globin gene mutations in patients with β-thalassemia intermedia in South China
    • Antonarakis SE, Kang J, Lam VMS, Tam JWO, Li AMC (1988) Molecular characterization of β-globin gene mutations in patients with β-thalassemia intermedia in South China. Br J Haematol 70:357-361
    • (1988) Br J Haematol , vol.70 , pp. 357-361
    • Antonarakis, S.E.1    Kang, J.2    Lam, V.M.S.3    Tam, J.W.O.4    Li, A.M.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.