메뉴 건너뛰기




Volumn 65, Issue 6, 1998, Pages 815-823

β - Thalassemias: Expression, molecular mechanisms and mutations in Indians

Author keywords

Hemoglobin synthesis; Indian mutations; thalassemias

Indexed keywords

GLOBIN;

EID: 0032195191     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02831339     Document Type: Conference Paper
Times cited : (5)

References (31)
  • 1
    • 0030723189 scopus 로고    scopus 로고
    • Codon 4 (ACT > ACA), codon 5 (CCT > TCT) and codon 6(GAG > TAG) mutations in cis position. A form of thalassemia triat
    • Agarwal S, Wei, L, Hattori, Y, Agarwal SS. Codon 4 (ACT > ACA), Codon 5 (CCT > TCT) and codon 6(GAG > TAG) mutations in cis position. A form of thalassemia triat. Am J Hematol 1997; 56 : 187-188.
    • (1997) Am J Hematol , vol.56 , pp. 187-188
    • Agarwal, S.1    Wei, L.2    Hattori, Y.3    Agarwal, S.S.4
  • 2
    • 0028176094 scopus 로고
    • Distribution of β-thalassemia mutations in 3 Asian Indian populations with distant geographic locations
    • Baysal E, Sharma S, Wong SC, Jogessar VB, Huisman THJ. Distribution of β-thalassemia mutations in 3 Asian Indian populations with distant geographic locations. Hemoglobin 1994; 18 : 201-209.
    • (1994) Hemoglobin , vol.18 , pp. 201-209
    • Baysal, E.1    Sharma, S.2    Wong, S.C.3    Jogessar, V.B.4    Huisman, T.H.J.5
  • 3
    • 0032020108 scopus 로고    scopus 로고
    • The β and δ thalassemia repository - 9th edition, part I
    • Baysal E, Huisman, THJ. The β and δ Thalassemia Repository - 9th Edition, Part I, Hemoglobin 1998; 22 : 169-195.
    • (1998) Hemoglobin , vol.22 , pp. 169-195
    • Baysal, E.1    Huisman, T.H.J.2
  • 4
    • 0001964041 scopus 로고    scopus 로고
    • Application of covalent reverse dot blot hydridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes
    • Colah RB, Gorakshakar AC, Lu CY et al. Application of covalent reverse dot blot hydridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes. Ind J Hematol and Blood Transfusion 1997; 15 : 10-13.
    • (1997) Ind J Hematol and Blood Transfusion , vol.15 , pp. 10-13
    • Colah, R.B.1    Gorakshakar, A.C.2    Lu, C.Y.3
  • 6
    • 0041137271 scopus 로고    scopus 로고
    • Molecular characterization of a novel 1.3 Kb deletion causing β-thalassemia with unusually high Hb A2
    • in press
    • Craig JE, Kelly SJ, Barnetson R, Thein SL. Molecular characterization of a novel 1.3 Kb deletion causing β-thalassemia with unusually high Hb A2. Br. J. Hematol in press (1998).
    • (1998) Br. J. Hematol
    • Craig, J.E.1    Kelly, S.J.2    Barnetson, R.3    Thein, S.L.4
  • 7
    • 0029075412 scopus 로고
    • A novel frameshift mutation causing β-thalassemia in a Sikh
    • EL - Kalla S, Mathews AR. A novel frameshift mutation causing β-thalassemia in a Sikh. Hemoglobin 1995; 19 : 183-189.
    • (1995) Hemoglobin , vol.19 , pp. 183-189
    • El -Kalla, S.1    Mathews, A.R.2
  • 9
    • 0023550898 scopus 로고
    • Evidence of a locus activating region. The formation of developmentally stable hypersensitive sites in globin expressing hybrids
    • Forrester WC, Takegawa S, Papayannapoulou T, Stamatoyannopoulos G, Groudine M. Evidence of a locus activating region. The formation of developmentally stable hypersensitive sites in globin expressing hybrids. Nucleic Acids Research 1987; 15 : 10159-10177.
    • (1987) Nucleic Acids Research , vol.15 , pp. 10159-10177
    • Forrester, W.C.1    Takegawa, S.2    Papayannapoulou, T.3    Stamatoyannopoulos, G.4    Groudine, M.5
  • 10
    • 0028244389 scopus 로고
    • The molecular basis of β-thalassemia in Punjabi and Maharashtrian Indians includes a multilulocus aetiology involving triplicated alpha globin loci
    • Garewal G, Fearon CW, Warren TC et al. The molecular basis of β-thalassemia in Punjabi and Maharashtrian Indians includes a multilulocus aetiology involving triplicated alpha globin loci. Br J Hemato 1994; 86 : 372-376.
    • (1994) Br J Hemato , vol.86 , pp. 372-376
    • Garewal, G.1    Fearon, C.W.2    Warren, T.C.3
  • 11
    • 0030839631 scopus 로고    scopus 로고
    • Prenatal diagnosis of β - Thalassemia among indians using denaturing gradient gel electrophoresis
    • Gorakshakar AC, Lulla CP, Nadkarni AH et al. Prenatal diagnosis of β - thalassemia among Indians using denaturing gradient gel electrophoresis. Hemoglobin 1997; 21 : 421-435.
    • (1997) Hemoglobin , vol.21 , pp. 421-435
    • Gorakshakar, A.C.1    Lulla, C.P.2    Nadkarni, A.H.3
  • 12
    • 0021399557 scopus 로고
    • Molecular characterization of seven β-thalassemia mutations in Asian Indians
    • Kazazian HH Jr., Orkin SH, Antonarakis, SE et al. Molecular characterization of seven β-thalassemia mutations in Asian Indians EMBO Journal 1984; 3 : 593-596.
    • (1984) EMBO Journal , vol.3 , pp. 593-596
    • Kazazian H.H., Jr.1    Orkin, S.H.2    Antonarakis, S.E.3
  • 13
    • 0025296040 scopus 로고
    • The thalassemia syndromes : Molecular basis and prenatal diagnosis in 1990
    • Kazazian HH Jr. The thalassemia syndromes : Molecular basis and prenatal diagnosis in 1990. Seminars in Hematol 1990; 27 : 209-228.
    • (1990) Seminars in Hematol , vol.27 , pp. 209-228
    • Kazazian H.H., Jr.1
  • 14
    • 0002533666 scopus 로고
    • Negative regulation of the human embryonic globin genes zeta and epsilon
    • Stamatoyannopoulos G, Neinhuis AW, Allan R. Liss (eds)
    • Lamb P, Wall P et al. Negative regulation of the human embryonic globin genes zeta and epsilon. In : Stamatoyannopoulos G, Neinhuis AW, Allan R. Liss (eds). Hemoglobin Switching Part A. Transcritional regulation. 1989; p. 269.
    • (1989) Hemoglobin Switching Part A. Transcritional Regulation , pp. 269
    • Lamb, P.1    Wall, P.2
  • 19
    • 0021348543 scopus 로고
    • Advances in thalassemia research
    • Nienhuis AW, Anagnou NP, Ley TJ. Advances in thalassemia research. Blood 1984; 63 : 738-758.
    • (1984) Blood , vol.63 , pp. 738-758
    • Nienhuis, A.W.1    Anagnou, N.P.2    Ley, T.J.3
  • 21
    • 0025119245 scopus 로고
    • Ethnic distribution of β-thalassemia in Indian sub-continent
    • Parikh P, Cotton M, Boehm C, Kazazian H, Jr. Ethnic distribution of β-thalassemia in Indian sub-continent. Lancet 1990; 336 : 1006.
    • (1990) Lancet , vol.336 , pp. 1006
    • Parikh, P.1    Cotton, M.2    Boehm, C.3    Kazazian H., Jr.4
  • 22
    • 0031009450 scopus 로고    scopus 로고
    • A novel β-thalassemia mutation codon 10 (GCC > GCA) and a rare transcriptional mutation (-28 A > G) in Indians
    • Pawar A, Colah R, Mohanty D. A novel β-thalassemia mutation codon 10 (GCC > GCA) and a rare transcriptional mutation (-28 A > G) in Indians. Blood 1997; 89 : 3888-3889.
    • (1997) Blood , vol.89 , pp. 3888-3889
    • Pawar, A.1    Colah, R.2    Mohanty, D.3
  • 23
    • 0031963304 scopus 로고    scopus 로고
    • Prenatal diagnosis of β-thalassemia : Experience in a developing country
    • Saxena R, Jain PK, Thomas E, Verma IC. Prenatal diagnosis of β-thalassemia : experience in a developing country. Prenatal Diagnosis 1998; 18 : 1-7.
    • (1998) Prenatal Diagnosis , vol.18 , pp. 1-7
    • Saxena, R.1    Jain, P.K.2    Thomas, E.3    Verma, I.C.4
  • 24
    • 0023741186 scopus 로고
    • The molecular basis of thalassemia major and thalassemia intermedia in Asian Indians : Application to prenatal diagnosis
    • Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of thalassemia major and thalassemia intermedia in Asian Indians : Application to prenatal diagnosis. Br. J. Hematol 1988; 70 : 225-231.
    • (1988) Br. J. Hematol , vol.70 , pp. 225-231
    • Thein, S.L.1    Hesketh, C.2    Wallace, R.B.3    Weatherall, D.J.4
  • 26
    • 0025309467 scopus 로고
    • Human globin locus activating region (LAR) : Role in temporal control
    • Townes TM, Behringer RR. Human globin locus activating region (LAR) : role in temporal control. Trends Genet 1990; 6 : 219-223.
    • (1990) Trends Genet , vol.6 , pp. 219-223
    • Townes, T.M.1    Behringer, R.R.2
  • 27
    • 0025887115 scopus 로고
    • The spectrum of β-thalassemia mutations on the Indian subcontinent : The basis for prenatal diagnosis
    • Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of β-thalassemia mutations on the Indian subcontinent : the basis for prenatal diagnosis. Br. J. Hematol 1991a; 78 : 242-247.
    • (1991) Br. J. Hematol , vol.78 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3    Venkatesan, R.4    Weatherall, D.J.5
  • 28
  • 29
    • 0030754149 scopus 로고    scopus 로고
    • Regional distribution of β-thalassemia mutations in India
    • Verma IC, Saxena R, Jain PK, Thomas E. Regional distribution of β-thalassemia mutations in India. Human Genetics 1997; 100 : 109-113.
    • (1997) Human Genetics , vol.100 , pp. 109-113
    • Verma, I.C.1    Saxena, R.2    Jain, P.K.3    Thomas, E.4
  • 31
    • 0023601968 scopus 로고
    • Characterization of β-thalassemia mutations using direct genomic sequencing of amplified single copy DNA
    • Wong C, Dowling CD, Saiki RK, Higuchi, RG, Erlich HK, Kazazian HH, Jr. Characterization of β-thalassemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987; 330 : 384-386.
    • (1987) Nature , vol.330 , pp. 384-386
    • Wong, C.1    Dowling, C.D.2    Saiki, R.K.3    Higuchi, R.G.4    Erlich, H.K.5    Kazazian H.H., Jr.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.