BETA-THALASSEMIA IN CHINESE - USE OF INVIVO RNA ANALYSIS AND OLIGONUCLEOTIDE HYBRIDIZATION IN SYSTEMATIC CHARACTERIZATION OF MOLECULAR DEFECTS

被引：173
作者：
CHENG, TC
ORKIN, SH
ANTONARAKIS, SE
POTTER, MJ
SEXTON, JP
MARKHAM, AF
GIARDINA, PJV
LI, A
KAZAZIAN, HH
机构：
[1] CHILDRENS HOSP MED CTR, FAC PEDIAT, DIV HEMATOL ONCOL, BOSTON, MA 02115 USA
[2] HARVARD UNIV, SCH MED, DANA FARBER CANC INST, BOSTON, MA 02115 USA
[3] NEW YORK HOSP, DIV PEDIAT HEMATOL ONCOL, NEW YORK, NY 10021 USA
[4] CORNELL UNIV, MED CTR, NEW YORK, NY 10021 USA
[5] UNIV HONG KONG, QUEEN MARY HOSP, DEPT PEDIAT, HONG KONG, HONG KONG
[6] ICI LTD, DIV PHARMACEUT, MACCLESFIELD SK10 4TG, CHESHIRE, ENGLAND
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1984年 / 81卷 / 09期
关键词：
D O I：
10.1073/pnas.81.9.2821
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：2821 / 2825
页数：5
相关论文
共 37 条
[1]   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
[2]   EVIDENCE FOR MULTIPLE ORIGINS OF THE BETA-E-GLOBIN GENE IN SOUTHEAST-ASIA [J].
ANTONARAKIS, SE ;
ORKIN, SH ;
KAZAZIAN, HH ;
GOFF, SC ;
BOEHM, CD ;
WABER, PG ;
SEXTON, JP ;
OSTRER, H ;
FAIRBANKS, VF ;
CHAKRAVARTI, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (21) :6608-6611
[3]   ORIGIN OF THE BETA-S-GLOBIN GENE IN BLACKS - THE CONTRIBUTION OF RECURRENT MUTATION OR GENE CONVERSION OR BOTH [J].
ANTONARAKIS, SE ;
BOEHM, CD ;
SERJEANT, GR ;
THEISEN, CE ;
DOVER, GJ ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (03) :853-856
[4]   BETA-THALASSEMIA IN AMERICAN BLACKS - NOVEL MUTATIONS IN THE TATA BOX AND AN ACCEPTOR SPLICE SITE [J].
ANTONARAKIS, SE ;
IRKIN, SH ;
CHENG, TC ;
SCOTT, AF ;
SEXTON, JP ;
TRUSKO, SP ;
CHARACHE, S ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (04) :1154-1158
[5]   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
[6]   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
[7]   ETIOLOGY OF GROWTH-HORMONE DEFICIENCY IN LITTLE, AMES, AND SNELL DWARF MICE [J].
CHENG, TC ;
BEAMER, WG ;
PHILLIPS, JA ;
BARTKE, A ;
MALLONEE, RL ;
DOWLING, C .
ENDOCRINOLOGY, 1983, 113 (05) :1669-1678
[8]   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
[9]  
Favaloro J, 1980, Methods Enzymol, V65, P718
[10]   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
1234