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

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1982年 / 307卷 / 01期

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

页码：32 / 36

页数：5

共 27 条

[1] PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES - REVIEW OF 15 CASES [J].

ALTER, BP ;

MODELL, CB ;

FAIRWEATHER, D ;

HOBBINS, JC ;

MAHONEY, MJ ;

FRIGOLETTO, FD ;

SHERMAN, AS ;

NATHAN, DG .

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 [J].

ANTONARAKIS, SE ;

BOEHM, CD ;

GIARDINA, PJV ;

KAZAZIAN, HH .

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 [J].

BUSSLINGER, M ;

MOSCHONAS, N ;

FLAVELL, RA .

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 [J].

FLAVELL, RA ;

KOOTER, JM ;

DEBOER, E ;

LITTLE, PFR ;

WILLIAMSON, R .

CELL, 1978, 15 (01) :25-41

[7] CHARACTERIZATION OF DELETIONS WHICH AFFECT THE EXPRESSION OF FETAL GLOBIN GENES IN MAN [J].

FRITSCH, EF ;

LAWN, RM ;

MANIATIS, T .

NATURE, 1979, 279 (5714) :598-603

[8] DIRECT IDENTIFICATION OF SICKLE-CELL-ANEMIA BY BLOT HYBRIDIZATION [J].

GEEVER, RF ;

WILSON, LB ;

NALLASETH, FS ;

MILNER, PF ;

BITTNER, M ;

WILSON, JT .

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 [J].

HOLLENBE.MD ;

KABACK, MM ;

KAZAZIAN, HH .

SCIENCE, 1971, 174 (4010) :698-&

[10] DETECTION OF SICKLE GENE IN HUMAN FETUS - POTENTIAL FOR INTRAUTERINE DIAGNOSIS OF SICKLE-CELL ANEMIA [J].

KAN, YW ;

DOZY, AM ;

FRIGOLETTO, FD ;

ALTER, BP ;

NATHAN, DG .

NEW ENGLAND JOURNAL OF MEDICINE, 1972, 287 (01) :1-+

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