IDENTIFICATION OF THE MULTIPLE BETA-THALASSEMIA MUTATIONS BY DENATURING GRADIENT GEL-ELECTROPHORESIS

被引：70

作者：

CAI, SP

KAN, YW

机构：

[1] UNIV CALIF SAN FRANCISCO,HOWARD HUGHES MED INST,BOX 0724,SAN FRANCISCO,CA 94143

[2] UNIV CALIF SAN FRANCISCO,DEPT LAB MED,SAN FRANCISCO,CA 94143

[3] UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94143

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1990年 / 85卷 / 02期

关键词：

Chinese; β-thalassemia; denaturing gradient gel electrophoresis; GC clamp; polymerase chain reaction;

D O I：

10.1172/JCI114471

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

We used denaturing gradient gel electrophoresis to detect the β-thalessemia mutations in the Chinese population. By amplifying the β-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.

引用

收藏

页码：550 / 553

页数：4

相关论文

共 11 条

[1]

CAI SP, 1989, BLOOD, V73, P372

[2] A SENSITIVE NEW PRENATAL TEST FOR SICKLE-CELL-ANEMIA [J].

CHANG, JC ;

KAN, YW .

NEW ENGLAND JOURNAL OF MEDICINE, 1982, 307 (01) :30-32

[3] DETECTION OF SICKLE-CELL BETA-S-GLOBIN ALLELE BY HYBRIDIZATION WITH SYNTHETIC OLIGONUCLEOTIDES [J].

CONNER, BJ ;

REYES, AA ;

MORIN, C ;

ITAKURA, K ;

TEPLITZ, RL ;

WALLACE, RB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (01) :278-282

[4] REACTIVITY OF CYTOSINE AND THYMINE IN SINGLE-BASE-PAIR MISMATCHES WITH HYDROXYLAMINE AND OSMIUM-TETROXIDE AND ITS APPLICATION TO THE STUDY OF MUTATIONS [J].

COTTON, RGH ;

RODRIGUES, NR ;

CAMPBELL, RD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (12) :4397-4401

[5] DNA FRAGMENTS DIFFERING BY SINGLE BASE-PAIR SUBSTITUTIONS ARE SEPARATED IN DENATURING GRADIENT GELS - CORRESPONDENCE WITH MELTING THEORY [J].

FISCHER, SG ;

LERMAN, LS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (06) :1579-1583

[6]

KAZAZIAN HH, 1988, BLOOD, V72, P1107

[7]

Myers R. M., 1988, Genome analysis: a practical approach., P95

[8]

MYERS RM, 1985, NUCLEIC ACIDS RES, V13, P3131, DOI 10.1093/nar/13.9.3131

[9] DETECTION OF SINGLE BASE SUBSTITUTIONS BY RIBONUCLEASE CLEAVAGE AT MISMATCHES IN RNA-DNA DUPLEXES [J].

MYERS, RM ;

LARIN, Z ;

MANIATIS, T .

SCIENCE, 1985, 230 (4731) :1242-1246

[10] ENZYMATIC AMPLIFICATION OF BETA-GLOBIN GENOMIC SEQUENCES AND RESTRICTION SITE ANALYSIS FOR DIAGNOSIS OF SICKLE-CELL ANEMIA [J].

SAIKI, RK ;

SCHARF, S ;

FALOONA, F ;

MULLIS, KB ;

HORN, GT ;

ERLICH, HA ;

ARNHEIM, N .

SCIENCE, 1985, 230 (4732) :1350-1354