LINKAGE OF BETA-THALASSEMIA MUTATIONS AND BETA-GLOBIN GENE POLYMORPHISMS WITH DNA POLYMORPHISMS IN HUMAN BETA-GLOBIN GENE-CLUSTER

被引：948

作者：

ORKIN, SH

KAZAZIAN, HH

ANTONARAKIS, SE

GOFF, SC

BOEHM, CD

SEXTON, JP

WABER, PG

GIARDINA, PJV

机构：

[1] CHILDRENS HOSP MED CTR, DIV HEMATOL & ONCOL, BOSTON, MA 02115 USA

[2] JOHNS HOPKINS UNIV, SCH MED, BALTIMORE, MD 21205 USA

[3] NEW YORK HOSP, DIV PEDIAT HEMATOL ONCOL, NEW YORK, NY 10021 USA

[4] SIDNEY FARBER CANC INST, BOSTON, MA 02115 USA

[5] JOHNS HOPKINS UNIV HOSP, PEDIAT GENET UNIT, BALTIMORE, MD 21205 USA

[6] CORNELL UNIV, MED CTR, NEW YORK, NY 10021 USA

来源：

NATURE | 1982年 / 296卷 / 5858期

关键词：

D O I：

10.1038/296627a0

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

页码：627 / 631

页数：5

共 35 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] 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

[3] INVIVO SEQUENCE REQUIREMENTS OF THE SV40 EARLY PROMOTER REGION [J].

BENOIST, C ;

CHAMBON, P .

NATURE, 1981, 290 (5804) :304-310

[4] SCREENING GAMMAGT RECOMBINANT CLONES BY HYBRIDIZATION TO SINGLE PLAQUES INSITU [J].

BENTON, WD ;

DAVIS, RW .

SCIENCE, 1977, 196 (4286) :180-182

[5] CHARON PHAGES FOR DNA CLONING .8. CLONING HUMAN FETAL GAMMA-GLOBIN AND MOUSE ALPHA-TYPE GLOBIN DNA - PREPARATION AND SCREENING OF SHOTGUN COLLECTIONS [J].

BLATTNER, FR ;

BLECHL, AE ;

DENNISTONTHOMPSON, K ;

FABER, HE ;

RICHARDS, JE ;

SLIGHTOM, JL ;

TUCKER, PW ;

SMITHIES, O .

SCIENCE, 1978, 202 (4374) :1279-1284

[6]

BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025

[7] 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

[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] A NEW POLYMORPHISM IN THE HUMAN BETA-GLOBIN GENE USEFUL IN ANTENATAL DIAGNOSIS [J].

DRISCOLL, MC ;

BAIRD, M ;

BANK, A ;

RACHMILEWITZ, EA .

JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (04) :915-919

[10] 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

← 1 2 3 4 →