THE BETA-O-THALASSEMIA IN AN AMERICAN BLACK-FAMILY IS DUE TO A SINGLE NUCLEOTIDE SUBSTITUTION IN THE ACCEPTOR SPLICE JUNCTION OF THE 2ND INTERVENING SEQUENCE

被引:28
作者
PADANILAM, BJ [1 ]
HUISMAN, THJ [1 ]
机构
[1] MED COLL GEORGIA,CTR COMPREHENS SICKLE CELL,DEPT CELL & MOLEC BIOL,AUGUSTA,GA 30912
关键词
D O I
10.1002/ajh.2830220306
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:259 / 263
页数:5
相关论文
共 29 条
  • [1] EVIDENCE FOR MULTIPLE ORIGINS OF THE BETA-E-GLOBIN GENE IN SOUTHEAST-ASIA
    ANTONARAKIS, SE
    ORKIN, SH
    KAZAZIAN, HH
    GOFF, SC
    BOEHM, CD
    WABER, PG
    SEXTON, JP
    OSTRER, H
    FAIRBANKS, VF
    CHAKRAVARTI, A
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (21): : 6608 - 6611
  • [2] ORIGIN OF THE BETA-S-GLOBIN GENE IN BLACKS - THE CONTRIBUTION OF RECURRENT MUTATION OR GENE CONVERSION OR BOTH
    ANTONARAKIS, SE
    BOEHM, CD
    SERJEANT, GR
    THEISEN, CE
    DOVER, GJ
    KAZAZIAN, HH
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (03): : 853 - 856
  • [3] BETA-THALASSEMIA IN AMERICAN BLACKS - NOVEL MUTATIONS IN THE TATA BOX AND AN ACCEPTOR SPLICE SITE
    ANTONARAKIS, SE
    IRKIN, SH
    CHENG, TC
    SCOTT, AF
    SEXTON, JP
    TRUSKO, SP
    CHARACHE, S
    KAZAZIAN, HH
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (04): : 1154 - 1158
  • [4] BETA-THALASSEMIA RESULTING FROM A SINGLE NUCLEOTIDE SUBSTITUTION IN AN ACCEPTOR SPLICE SITE
    ATWEH, GF
    ANAGNOU, NP
    SHEARIN, J
    FORGET, BG
    KAUFMAN, RE
    [J]. NUCLEIC ACIDS RESEARCH, 1985, 13 (03) : 777 - 790
  • [5] BERNARDS R, 1980, NUCLEIC ACIDS RES, V8, P1521, DOI 10.1093/nar/8.7.1521
  • [6] BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025
  • [7] BETA+ THALASSEMIA - ABERRANT SPLICING RESULTS FROM A SINGLE POINT MUTATION IN AN INTRON
    BUSSLINGER, M
    MOSCHONAS, N
    FLAVELL, RA
    [J]. CELL, 1981, 27 (02) : 289 - 298
  • [8] BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN
    CHANG, JC
    WAIKAN, Y
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) : 2886 - 2889
  • [9] DUTCH BETA-0-THALASSAEMIA - A 10 KILOBASE DNA DELETION ASSOCIATED WITH SIGNIFICANT GAMMA-CHAIN PRODUCTION
    GILMAN, JG
    HUISMAN, THJ
    ABELS, J
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1984, 56 (02) : 339 - 348
  • [10] PRESENT STATUS OF HETEOGENEITY OF FETAL HEMOGLOBIN IN BETA-THALASSEMIA - ATTEMPT TO UNIFY SOME OBSERVATIONS IN THALASSEMIA AND RELATED CONDITIONS
    HUISMAN, THJ
    SCHROEDER, WA
    EFREMOV, GD
    DUMA, H
    MLADENOVSKI, B
    HYMAN, CB
    RACHMILEWITZ, EA
    BOUVER, N
    MILLER, A
    BRODIE, A
    SHELTON, JR
    SHELTON, JB
    APELL, G
    [J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1974, 232 (MAY24) : 107 - 124