STRUCTURE OF THE HUMAN BETA-GLOBIN GENE IN BETA-THALASSEMIA

被引:79
作者
FLAVELL, RA [1 ]
BERNARDS, R [1 ]
KOOTER, JM [1 ]
BOER, E [1 ]
LITTLE, PFR [1 ]
ANNISON, G [1 ]
WILLIAMSON, R [1 ]
机构
[1] UNIV LONDON, ST MARYS HOSP MED SCH, DEPT BIOCHEM, LONDON, ENGLAND
基金
英国医学研究理事会;
关键词
D O I
10.1093/nar/6.8.2749
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Twenty-one cases of β0- and β+ -thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the β- and δ-globin genes could be detected. However, in a single Asian case of β0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a β-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3′ end of the structural gene including the EcoRI restriction site within the β-globin coding sequence. © 1979 Information Retrieval Limited.
引用
收藏
页码:2749 / 2760
页数:12
相关论文
共 23 条
  • [1] VARIABILITY IN AMOUNT OF BETA-GLOBIN MESSENGER-RNA IN BETA-O THALASSEMIA
    BENZ, EJ
    HILLMAN, DG
    COHENSOLAL, M
    PRITCHARD, J
    CAVALLESCO, C
    PRENSKY, W
    HOUSMAN, D
    FORGET, BG
    [J]. CELL, 1978, 14 (02) : 299 - 312
  • [2] ARRANGEMENT OF SIMIAN-VIRUS 40 SEQUENCES IN DNA OF TRANSFORMED-CELLS
    BOTCHAN, M
    TOPP, W
    SAMBROOK, J
    [J]. CELL, 1976, 9 (02) : 269 - 287
  • [3] TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL DEFECTS IN BETA-O-THALASSAEMIA
    COMI, P
    GIGLIONI, B
    BARBARANO, L
    OTTOLENGHI, S
    WILLIAMSON, R
    NOVAKOVA, M
    MASERA, G
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1977, 79 (02): : 617 - 622
  • [4] ANALYSIS OF BETA-DELTA-GLOBIN GENE LOCI IN NORMAL AND HB LEPORE DNA - DIRECT DETERMINATION OF GENE LINKAGE AND INTERGENE DISTANCE
    FLAVELL, RA
    KOOTER, JM
    DEBOER, E
    LITTLE, PFR
    WILLIAMSON, R
    [J]. CELL, 1978, 15 (01) : 25 - 41
  • [5] SITE-DIRECTED MUTAGENESIS - GENERATION OF AN EXTRACISTRONIC MUTATION IN BACTERIOPHAGE Q-BETA-RNA
    FLAVELL, RA
    SABO, DL
    BANDLE, EF
    WEISSMANN, C
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1974, 89 (02) : 255 - +
  • [6] ABSENCE OF MESSENGER-RNA FOR BETA GLOBIN CHAIN IN BETA-THALASSEMIA
    FORGET, BG
    BENZ, EJ
    SKOULTCHI, A
    BAGLIONI, C
    HOUSMAN, D
    [J]. NATURE, 1974, 247 (5440) : 379 - 381
  • [7] QUANTITATIVE DEFICIENCY OF CHAIN-SPECIFIC GLOBIN MESSENGER RIBONUCLEIC-ACIDS IN THALASSEMIA SYNDROMES
    HOUSMAN, D
    FORGET, BG
    SKOULTCHI, A
    BENZ, EJ
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (06) : 1809 - 1813
  • [8] PHYSICAL MAP OF DNA REGIONS FLANKING RABBIT BETA-GLOBIN GENE
    JEFFREYS, AJ
    FLAVELL, RA
    [J]. CELL, 1977, 12 (02) : 429 - 439
  • [9] DECREASED GLOBIN MESSENGER-RNA IN THALASSEMIA DETECTED BY MOLECULAR HYBRIDIZATION
    KACIAN, DL
    GAMBINO, R
    DOW, LW
    GROSSBARD, E
    NATTA, C
    RAMIREZ, F
    SPIEGELMAN, S
    MARKS, PA
    BANK, A
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (06) : 1886 - 1890
  • [10] KAN YW, 1978, LANCET, V2, P910