The Polydeoxyadenylate Tract of Alu Repetitive Elements is Polymorphic in the Human Genome

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 th...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1990-04, Vol.87 (8), p.2951-2954
Main Authors: Economou, Effrosini P., Bergen, Andrew W., Warren, Andrew C., Antonarakis, Stylianos E.
Format: Article
Language:English
Subjects:
550201 - Biochemistry- Tracer Techniques
550401 - Genetics- Tracer Techniques
Alleles
ANIMALS
Base Sequence
BASIC BIOLOGICAL SCIENCES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
Biological and medical sciences
BIOLOGICAL MARKERS
Chromosome polymorphism
Chromosomes
Classical genetics, quantitative genetics, hybrids
DAYS LIVING RADIOISOTOPES
DNA
DNA SEQUENCING
ENZYMES
Female
Fundamental and applied biological sciences. Psychology
GENE AMPLIFICATION
Genes
Genetic polymorphism
Genetics of eukaryotes. Biological and molecular evolution
Genome, Human
GLOBINS
Human
Human genome
Humans
ISOTOPES
LIGHT NUCLEI
LYASES
Male
MAMMALS
MAN
Molecular Sequence Data
NUCLEI
Nucleotides
ODD-ODD NUCLEI
Oligonucleotide Probes
Oligonucleotides
ORGANIC COMPOUNDS
Pedigree
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
Poly A - genetics
Polymerase chain reaction
Polymorphism, Genetic
PRIMATES
PROTEINS
RADIOISOTOPES
Repetitive Sequences, Nucleic Acid
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
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Description
Summary: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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.87.8.2951