A NUCLEOTIDE CHANGE AT A SPLICE JUNCTION IN THE HUMAN BETA-GLOBIN GENE IS ASSOCIATED WITH BETAO-THALASSEMIA

被引:118
作者
BAIRD, M
DRISCOLL, C
SCHREINER, H
SCIARRATTA, GV
SANSONE, G
NIAZI, G
RAMIREZ, F
BANK, A
机构
[1] COLUMBIA UNIV COLL PHYS & SURG,DEPT PEDIAT,NEW YORK,NY 10032
[2] COLUMBIA UNIV COLL PHYS & SURG,DEPT HUMAN GENET & DEV,NEW YORK,NY 10032
[3] OSPED GALLIERA,CTR MICROCITEMIA,GENOA,ITALY
[4] INT REFERENCE & RES CTR BLOOD DIS,INT HLTH RESOURCE CTR HAWAII,KAUAI PREVENT MED PROGRAM 4,LIHUE,HI
[5] COLL MED & DENT NEW JERSEY,RUTGERS MED SCH,DEPT OBSTET & GYNECOL,PISCATAWAY,NJ 08854
来源
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1981年 / 78卷 / 07期
关键词
D O I
10.1073/pnas.78.7.4218
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:4218 / 4221
页数:4
相关论文
共 34 条
[1]  
BANK A, 1978, BLOOD, V51, P369
[2]   DISORDERS OF HUMAN-HEMOGLOBIN [J].
BANK, A ;
MEARS, JG ;
RAMIREZ, F .
SCIENCE, 1980, 207 (4430) :486-493
[3]  
BANK A, 1979, EUCARYOTIC GENE REGU, P355
[4]   VARIABILITY IN AMOUNT OF BETA-GLOBIN MESSENGER-RNA IN BETA-O THALASSEMIA [J].
BENZ, EJ ;
HILLMAN, DG ;
COHENSOLAL, M ;
PRITCHARD, J ;
CAVALLESCO, C ;
PRENSKY, W ;
HOUSMAN, D ;
FORGET, BG .
CELL, 1978, 14 (02) :299-312
[5]   OVALBUMIN GENE - EVIDENCE FOR A LEADER SEQUENCE IN MESSENGER-RNA AND DNA SEQUENCES AT EXON-INTRON BOUNDARIES [J].
BREATHNACH, R ;
BENOIST, C ;
OHARE, K ;
GANNON, F ;
CHAMBON, P .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (10) :4853-4857
[6]  
BUNN HF, 1977, HEMOGLOBINOPATHIES, P28
[7]  
BURNS AL, 1981, BLOOD, V57, P140
[8]   BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN [J].
CHANG, JC ;
WAIKAN, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) :2886-2889
[9]   THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].
EFSTRATIADIS, A ;
POSAKONY, JW ;
MANIATIS, T ;
LAWN, RM ;
OCONNELL, C ;
SPRITZ, RA ;
DERIEL, JK ;
FORGET, BG ;
WEISSMAN, SM ;
SLIGHTOM, JL ;
BLECHL, AE ;
SMITHIES, O ;
BARALLE, FE ;
SHOULDERS, CC ;
PROUDFOOT, NJ .
CELL, 1980, 21 (03) :653-668
[10]   STRUCTURE OF THE HUMAN BETA-GLOBIN GENE IN BETA-THALASSEMIA [J].
FLAVELL, RA ;
BERNARDS, R ;
KOOTER, JM ;
BOER, E ;
LITTLE, PFR ;
ANNISON, G ;
WILLIAMSON, R .
NUCLEIC ACIDS RESEARCH, 1979, 6 (08) :2749-2760