ONE BASE SUBSTITUTION IN IVS-2 CAUSES A BETA+-THALASSEMIA PHENOTYPE IN A CHINESE PATIENT

被引:8
作者
TAKIHARA, Y
MATSUNAGA, E
NAKAMURA, T
LIN, S
LEE, H
FUKUMAKI, Y
TAKAGI, Y
机构
[1] NATL TSINGHUA UNIV,INST MOLEC BIOL,HSINCHU 300,TAIWAN
[2] TAIPEI MED COLL,DEPT PEDIAT,TAIPEI 105,TAIWAN
关键词
D O I
10.1016/0006-291X(84)90726-5
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
引用
收藏
页码:324 / 330
页数:7
相关论文
共 23 条
[1]   A NUCLEOTIDE CHANGE AT A SPLICE JUNCTION IN THE HUMAN BETA-GLOBIN GENE IS ASSOCIATED WITH BETAO-THALASSEMIA [J].
BAIRD, M ;
DRISCOLL, C ;
SCHREINER, H ;
SCIARRATTA, GV ;
SANSONE, G ;
NIAZI, G ;
RAMIREZ, F ;
BANK, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (07) :4218-4221
[2]  
BERKNER KL, 1977, J BIOL CHEM, V252, P3176
[3]   GENERAL METHOD FOR ISOLATION OF HIGH MOLECULAR-WEIGHT DNA FROM EUKARYOTES [J].
BLIN, N ;
STAFFORD, DW .
NUCLEIC ACIDS RESEARCH, 1976, 3 (09) :2303-2308
[4]  
BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025
[5]   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
[6]  
CHENG T, 1984, P NATL ACAD SCI US
[7]   ABNORMAL SPLICE IN A MUTANT HUMAN BETA-GLOBIN GENE NOT AT THE SITE OF A MUTATION [J].
DOBKIN, C ;
PERGOLIZZI, RG ;
BAHRE, P ;
BANK, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (05) :1184-1188
[8]   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
[9]   ABNORMALLY SPLICED MESSENGER-RNA IN ERYTHROID-CELLS FROM PATIENTS WITH BETA+-THALASSEMIA AND MONKEY CELLS EXPRESSING A CLONED BETA+-THALASSEMIC GENE [J].
FUKUMAKI, Y ;
GHOSH, PK ;
BENZ, EJ ;
REDDY, VB ;
LEBOWITZ, P ;
FORGET, BG ;
WEISSMAN, SM .
CELL, 1982, 28 (03) :585-593
[10]   SILENT NUCLEOTIDE SUBSTITUTION IN A BETA+-THALASSEMIA GLOBIN GENE ACTIVATES SPLICE SITE IN CODING SEQUENCE RNA [J].
GOLDSMITH, ME ;
HUMPHRIES, RK ;
LEY, T ;
CLINE, A ;
KANTOR, JA ;
NIENHUIS, AW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (08) :2318-2322