GAMMA-DELTA-BETA-THALASSEMIA DUE TO A DENOVO MUTATION DELETING THE 5' BETA-GLOBIN GENE ACTIVATION-REGION HYPERSENSITIVE SITES

被引:201
作者
DRISCOLL, MC
DOBKIN, CS
ALTER, BP
机构
[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT PEDIAT,DIV HEMATOL,BRONX,NY 10461
[2] CUNY MT SINAI SCH MED,DEPT PEDIAT,POLLY ANNENBERG LEVEE HEMATOL CTR,NEW YORK,NY 10029
[3] CUNY MT SINAI SCH MED,DEPT MED,NEW YORK,NY 10029
[4] NEW YORK STATE INST BASIC RES DEV DISABILITIES,DEPT GENET,STATEN ISL,NY 10314
关键词
D O I
10.1073/pnas.86.19.7470
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:7470 / 7474
页数:5
相关论文
共 36 条
[21]   HEMOLYTIC-DISEASE OF THE NEWBORN CAUSED BY A NEW DELETION OF THE ENTIRE BETA-GLOBIN CLUSTER [J].
PIRASTU, M ;
KAN, YW ;
LIN, CC ;
BAINE, RM ;
HOLBROOK, CT .
JOURNAL OF CLINICAL INVESTIGATION, 1983, 72 (02) :602-609
[22]  
Rich A, 1983, Cold Spring Harb Symp Quant Biol, V47 Pt 1, P1
[23]   LABELING DEOXYRIBONUCLEIC-ACID TO HIGH SPECIFIC ACTIVITY INVITRO BY NICK TRANSLATION WITH DNA-POLYMERASE I [J].
RIGBY, PWJ ;
DIECKMANN, M ;
RHODES, C ;
BERG, P .
JOURNAL OF MOLECULAR BIOLOGY, 1977, 113 (01) :237-251
[24]   HIGH-LEVEL ERYTHROID EXPRESSION OF HUMAN ALPHA-GLOBIN GENES IN TRANSGENIC MICE [J].
RYAN, TM ;
BEHRINGER, RR ;
TOWNES, TM ;
PALMITER, RD ;
BRINSTER, RL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (01) :37-41
[25]   A SINGLE ERYTHROID-SPECIFIC DNASE-I SUPER-HYPERSENSITIVE SITE ACTIVATES HIGH-LEVELS OF HUMAN BETA-GLOBIN GENE-EXPRESSION IN TRANSGENIC MICE [J].
RYAN, TM ;
BEHRINGER, RR ;
MARTIN, NC ;
TOWNES, TM ;
PALMITER, RD ;
BRINSTER, RL .
GENES & DEVELOPMENT, 1989, 3 (03) :314-323
[26]   PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].
SAIKI, RK ;
GELFAND, DH ;
STOFFEL, S ;
SCHARF, SJ ;
HIGUCHI, R ;
HORN, GT ;
MULLIS, KB ;
ERLICH, HA .
SCIENCE, 1988, 239 (4839) :487-491
[27]   SEPARATION OF YEAST CHROMOSOME-SIZED DNAS BY PULSED FIELD GRADIENT GEL-ELECTROPHORESIS [J].
SCHWARTZ, DC ;
CANTOR, CR .
CELL, 1984, 37 (01) :67-75
[28]  
SMITH CL, 1986, GENETIC ENG, V8, P45
[29]   A DOMINANT CONTROL REGION FROM THE HUMAN BETA-GLOBIN LOCUS CONFERRING INTEGRATION SITE-INDEPENDENT GENE-EXPRESSION [J].
TALBOT, D ;
COLLIS, P ;
ANTONIOU, M ;
VIDAL, M ;
GROSVELD, F ;
GREAVES, DR .
NATURE, 1989, 338 (6213) :352-355
[30]  
TARMELLI R, 1986, NUCLEIC ACIDS RES, V14, P7017