메뉴 건너뛰기




Volumn 28, Issue 1, 2004, Pages 15-24

Detection of Rare β-Thalassemia Mutations by Denaturing Gradient Gel Electrophoresis among Indians

Author keywords

Thalassemia (thal); Denaturing gradient gel electrophoresis (DGGE); India; Rare mutations

Indexed keywords

POLYADENYLIC POLYURIDYLIC ACID;

EID: 1342323878     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120028883     Document Type: Article
Times cited : (8)

References (22)
  • 2
    • 0032020108 scopus 로고    scopus 로고
    • The β- and δ-thalassemia repository (Ninth edition; Part I)
    • Huisman THJ, Carver MFH. The β- and δ-thalassemia repository (Ninth edition; Part I). Hemoglobin 1998; 22(2):169-195.
    • (1998) Hemoglobin , vol.22 , Issue.2 , pp. 169-195
    • Huisman, T.H.J.1    Carver, M.F.H.2
  • 3
    • 0007699405 scopus 로고    scopus 로고
    • Thalassemias: Molecular genetics in antenatal diagnosis
    • Lokeshwar MR, Marwaha RK, Sha N, eds. New Delhi: Jaypee Brothers
    • Colah RB, Gorakshakar AC. Thalassemias: molecular genetics in antenatal diagnosis. In: Lokeshwar MR, Marwaha RK, Sha N, eds. Recent Advances in Pediatrics. New Delhi: Jaypee Brothers, 2000; 22-45.
    • (2000) Recent Advances in Pediatrics , pp. 22-45
    • Colah, R.B.1    Gorakshakar, A.C.2
  • 4
    • 0034090980 scopus 로고    scopus 로고
    • Identification of a novel frameshift β-thalassemia mutation in an Asian Indian
    • Agarwal S, Hattori Y, Agarwal SS. Identification of a novel frameshift β-thalassemia mutation in an Asian Indian. Clin Genet 2000; 57(4):311-312.
    • (2000) Clin Genet , vol.57 , Issue.4 , pp. 311-312
    • Agarwal, S.1    Hattori, Y.2    Agarwal, S.S.3
  • 5
    • 0034123188 scopus 로고    scopus 로고
    • Geographic and ethnic distribution of β-thalassemia mutations in Uttar Pradesh, India
    • Agarwal S, Pradhan M, Gupta UR, Sarwai S, Agarwal SS. Geographic and ethnic distribution of β-thalassemia mutations in Uttar Pradesh, India. Hemoglobin 2000; 24(2):89-97.
    • (2000) Hemoglobin , vol.24 , Issue.2 , pp. 89-97
    • Agarwal, S.1    Pradhan, M.2    Gupta, U.R.3    Sarwai, S.4    Agarwal, S.S.5
  • 8
    • 1342297775 scopus 로고    scopus 로고
    • Progress in technology for mutation detection in hematological disorders
    • Gorakshakar AC. Progress in technology for mutation detection in hematological disorders. ICMR Bull 2000; 30(1):1-10.
    • (2000) ICMR Bull , vol.30 , Issue.1 , pp. 1-10
    • Gorakshakar, A.C.1
  • 9
    • 78651005586 scopus 로고
    • Studies of abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation
    • Singer K, Chernoff AI, Singer L. Studies of abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood 1951; 6:413-428.
    • (1951) Blood , vol.6 , pp. 413-428
    • Singer, K.1    Chernoff, A.I.2    Singer, L.3
  • 10
    • 0002804385 scopus 로고
    • Gene analysis
    • Weatherall DJ, ed. Edinburgh: Churchill Livingstone
    • Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, ed. The Thalassemias, Methods in Hematology. Vol. 6. Edinburgh: Churchill Livingstone, 1982; 74-102.
    • (1982) The Thalassemias, Methods in Hematology , vol.6 , pp. 74-102
    • Old, J.M.1    Higgs, D.R.2
  • 11
    • 0027018911 scopus 로고
    • A comprehensive scanning method for rapid detection of β-globin mutations and polymorphisms
    • Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M. A comprehensive scanning method for rapid detection of β-globin mutations and polymorphisms. Hum Mutat 1992; 1(3):229-239.
    • (1992) Hum Mutat , vol.1 , Issue.3 , pp. 229-239
    • Ghanem, N.1    Girodon, E.2    Vidaud, M.3    Martin, J.4    Fanen, P.5    Plassa, F.6    Goossens, M.7
  • 13
    • 0017681196 scopus 로고
    • DNA sequencing with chain termination inhibitors
    • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain termination inhibitors. Proc Natl Acad Sci U S A 1977; 74(12):5463-5469.
    • (1977) Proc Natl Acad Sci U S A , vol.74 , Issue.12 , pp. 5463-5469
    • Sanger, F.1    Nicklen, S.2    Coulson, A.R.3
  • 14
    • 0022021842 scopus 로고
    • Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human β-globin gene
    • Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH Jr. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human β-globin gene. EMBO J 1985; 4(2):453-456.
    • (1985) EMBO J , vol.4 , Issue.2 , pp. 453-456
    • Orkin, S.H.1    Cheng, T.C.2    Antonarakis, S.E.3    Kazazian Jr., H.H.4
  • 15
    • 0025887115 scopus 로고
    • The spectrum of β-thalassaemia mutations on the Indian subcontinent: The basis for prenatal diagnosis
    • Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of β-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol 1991; 78(2):242-247.
    • (1991) Br J Haematol , vol.78 , Issue.2 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3    Venkatesan, R.4    Weatherall, D.J.5
  • 16
    • 0033847656 scopus 로고    scopus 로고
    • Distribution of β-thalassemia mutations in the Indian population referred to a diagnostic center
    • Vaz FEE, Thakur CB, Banerjee MK, Gangal SG. Distribution of β-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin 2000; 24(3):181-194.
    • (2000) Hemoglobin , vol.24 , Issue.3 , pp. 181-194
    • Vaz, F.E.E.1    Thakur, C.B.2    Banerjee, M.K.3    Gangal, S.G.4
  • 17
    • 0027102785 scopus 로고
    • Analysis of β-globin gene haplotypes in Asian Indians: Origin and spread of β-thalassemia on the Indian subcontinent
    • Varawalla NY, Fitches AC, Old JM. Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassemia on the Indian subcontinent. Hum Genet 1992; 90(4):443-449.
    • (1992) Hum Genet , vol.90 , Issue.4 , pp. 443-449
    • Varawalla, N.Y.1    Fitches, A.C.2    Old, J.M.3
  • 18
    • 0030987038 scopus 로고    scopus 로고
    • s haplotypes and α- and β-thalassemia alleles in the Arabian peninsula
    • s haplotypes and α- and β-thalassemia alleles in the Arabian peninsula. Hemoglobin 1997; 21(3):281-296.
    • (1997) Hemoglobin , vol.21 , Issue.3 , pp. 281-296
    • Adekile, A.D.1
  • 20
    • 0024637804 scopus 로고
    • One form of inclusion body β-thalassemia is due to a GAA→TAA mutation at codon 121 of the β-globin chain
    • Fei YJ, Stoming TA, Kutlar A, Huisman THJ, Stamatoyannopoulas G. One form of inclusion body β-thalassemia is due to a GAA→TAA mutation at codon 121 of the β-globin chain. Blood 1989; 73(4):1075-1076.
    • (1989) Blood , vol.73 , Issue.4 , pp. 1075-1076
    • Fei, Y.J.1    Stoming, T.A.2    Kutlar, A.3    Huisman, T.H.J.4    Stamatoyannopoulas, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.