THE POLYDEOXYADENYLATE TRACT OF ALU REPETITIVE ELEMENTS IS POLYMORPHIC IN THE HUMAN GENOME

被引：272

作者：

ECONOMOU, EP

BERGEN, AW

WARREN, AC

ANTONARAKIS, SE

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PEDIAT, CMSC 1004, BALTIMORE, MD 21205 USA

[2] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PSYCHIAT, BALTIMORE, MD 21205 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1990年 / 87卷 / 08期

关键词：

Adenosine deaminase gene; DNA marker; Polymerase chain reaction; β-globin gene cluster;

D O I：

10.1073/pnas.87.8.2951

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：

To identify DNA polymorphisms that are abundant in the human genome and are detectable by polymerase chain reaction amplification of genomic DNA, we tested the hypothesis that the polydeoxyadenylate tract of the Alu family of repetitive elements is polymorphic among human chromosomes. We analyzed the 3′ ends of three specific Alu sequences and found that two (in the adenosine deaminase gene and the β-globin pseudogene) were polymorphic. This novel class of polymorphisms, termed AluVpA [Alu variable poly(A)] may represent one of the most useful and informative group of DNA markers in the human genome.

引用

页码：2951 / 2954

页数：4

共 33 条

[1] CHROMOSOMAL ORGANIZATION OF THE HUMAN DIHYDROFOLATE-REDUCTASE GENES - DISPERSION, SELECTIVE AMPLIFICATION, AND A NOVEL FORM OF POLYMORPHISM [J].

ANAGNOU, NP ;

OBRIEN, SJ ;

SHIMADA, T ;

NASH, WG ;

CHEN, MJ ;

NIENHUIS, AW .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (16) :5170-5174

[2]

BOTSTEIN D, 1980, AM J HUM GENET, V32, P314

[3] STRUCTURAL-ANALYSIS OF THE 5' FLANKING REGION OF THE BETA-GLOBIN GENE IN AFRICAN SICKLE-CELL ANEMIA PATIENTS - FURTHER EVIDENCE FOR 3 ORIGINS OF THE SICKLE-CELL MUTATION IN AFRICA [J].

CHEBLOUNE, Y ;

PAGNIER, J ;

TRABUCHET, G ;

FAURE, C ;

VERDIER, G ;

LABIE, D ;

NIGON, V .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (12) :4431-4435

[4]

DAUSSET J, 1986, PRESSE MED, V15, P1801

[5] BASE SEQUENCE STUDIES OF 300 NUCLEOTIDE RENATURED REPEATED HUMAN DNA CLONES [J].

DEININGER, PL ;

JOLLY, DJ ;

RUBIN, CM ;

FRIEDMANN, T ;

SCHMID, CW .

JOURNAL OF MOLECULAR BIOLOGY, 1981, 151 (01) :17-33

[6] A GENETIC-LINKAGE MAP OF THE HUMAN GENOME [J].

DONISKELLER, H ;

GREEN, P ;

HELMS, C ;

CARTINHOUR, S ;

WEIFFENBACH, B ;

STEPHENS, K ;

KEITH, TP ;

BOWDEN, DW ;

SMITH, DR ;

LANDER, ES ;

BOTSTEIN, D ;

AKOTS, G ;

REDIKER, KS ;

GRAVIUS, T ;

BROWN, VA ;

RISING, MB ;

PARKER, C ;

POWERS, JA ;

WATT, DE ;

KAUFFMAN, ER ;

BRICKER, A ;

PHIPPS, P ;

MULLERKAHLE, H ;

FULTON, TR ;

NG, S ;

SCHUMM, JW ;

BRAMAN, JC ;

KNOWLTON, RG ;

BARKER, DF ;

CROOKS, SM ;

LINCOLN, SE ;

DALY, MJ ;

ABRAHAMSON, J .

CELL, 1987, 51 (02) :319-337

[7] THE GENETIC-LINKAGE MAP OF THE HUMAN X-CHROMOSOME [J].

DRAYNA, D ;

WHITE, R .

SCIENCE, 1985, 230 (4727) :753-758

[8] DELETION POLYMORPHISM 5' TO THE HUMAN APOLIPOPROTEIN AI (APO AI) GENE [J].

FROSSARD, PM ;

COLEMAN, RT ;

PROTTER, AA ;

SEILHAMER, JJ ;

FUNKE, H ;

ASSMANN, G .

NUCLEIC ACIDS RESEARCH, 1986, 14 (21) :8694-8694

[9] SPONTANEOUS MUTATION-RATES TO NEW LENGTH ALLELES AT TANDEM-REPETITIVE HYPERVARIABLE LOCI IN HUMAN DNA [J].

JEFFREYS, AJ ;

ROYLE, NJ ;

WILSON, V ;

WONG, Z .

NATURE, 1988, 332 (6161) :278-281

[10] HYPERVARIABLE MINISATELLITE REGIONS IN HUMAN DNA [J].

JEFFREYS, AJ ;

WILSON, V ;

THEIN, SL .

NATURE, 1985, 314 (6006) :67-73

← 1 2 3 4 →