IMPROVED DETECTION OF THE SICKLE MUTATION BY DNA ANALYSIS - APPLICATION TO PRENATAL-DIAGNOSIS

被引:196
作者
ORKIN, SH
LITTLE, PFR
KAZAZIAN, HH
BOEHM, CD
机构
[1] HARVARD UNIV, SCH MED, SIDNEY FARBER CANC INST, DEPT PEDIAT, BOSTON, MA 02115 USA
[2] HARVARD UNIV, DEPT BIOCHEM & MOLEC BIOL, BOSTON, MA 02115 USA
[3] JOHNS HOPKINS UNIV HOSP, SCH MED, DEPT PEDIAT, PEDIAT GENET UNIT, BALTIMORE, MD 21205 USA
关键词
D O I
10.1056/NEJM198207013070106
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:32 / 36
页数:5
相关论文
共 27 条
  • [1] PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES - REVIEW OF 15 CASES
    ALTER, BP
    MODELL, CB
    FAIRWEATHER, D
    HOBBINS, JC
    MAHONEY, MJ
    FRIGOLETTO, FD
    SHERMAN, AS
    NATHAN, DG
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (26) : 1437 - 1443
  • [2] ALTER BP, 1981, LANCET, V2, P1152
  • [3] NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER
    ANTONARAKIS, SE
    BOEHM, CD
    GIARDINA, PJV
    KAZAZIAN, HH
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01): : 137 - 141
  • [4] 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
  • [5] CHANG JC, 1981, LANCET, V2, P1127
  • [6] 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
  • [7] CHARACTERIZATION OF DELETIONS WHICH AFFECT THE EXPRESSION OF FETAL GLOBIN GENES IN MAN
    FRITSCH, EF
    LAWN, RM
    MANIATIS, T
    [J]. NATURE, 1979, 279 (5714) : 598 - 603
  • [8] DIRECT IDENTIFICATION OF SICKLE-CELL-ANEMIA BY BLOT HYBRIDIZATION
    GEEVER, RF
    WILSON, LB
    NALLASETH, FS
    MILNER, PF
    BITTNER, M
    WILSON, JT
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08): : 5081 - 5085
  • [9] ADULT HEMOGLOBIN SYNTHESIS BY RETICULOCYTES FROM HUMAN FETUS AT MIDTRIMESTER
    HOLLENBE.MD
    KABACK, MM
    KAZAZIAN, HH
    [J]. SCIENCE, 1971, 174 (4010) : 698 - &
  • [10] DETECTION OF SICKLE GENE IN HUMAN FETUS - POTENTIAL FOR INTRAUTERINE DIAGNOSIS OF SICKLE-CELL ANEMIA
    KAN, YW
    DOZY, AM
    FRIGOLETTO, FD
    ALTER, BP
    NATHAN, DG
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1972, 287 (01) : 1 - +