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PMID: 6321327 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

DNA restriction fragment length polymorphisms and heterozygosity in the human genome.

Human genetics ·Vol. 66 ·No. 1 ·1984-00-00 ·Pages 1-16

Cooper DN, Schmidtke J

Abstract

A list is presented of published reports of DNA polymorphisms found in the human genome by restriction enzyme analysis. While the list indicates the large number of restriction fragment length polymorphisms (RFLPs) detected to date, the information collated is insufficient to permit an estimate of heterozygosity for the genome as a whole. Data from our laboratory are therefore also presented on RFLPs detected using a random sample of cloned DNA segments. Such an analysis has permitted a first unbiassed estimate of heterozygosity for the human genome. Since this figure is an order of magnitude higher than previous estimates derived from protein data, the majority of polymorphic variation present in the human genome must, by implication, occur in noncoding sequences. In addition it was confirmed that enzymes containing the dinucleotide CpG in their recognition sequences detect more polymorphic variation than those that do not contain a CpG. Also presented are the clinical applications of DNA polymorphisms in the diagnosis of human genetic disease.

MeSH Terms
Chromosome Mapping DNA/genetics DNA Restriction Enzymes DNA, Recombinant Gene Frequency Genes Genetic Linkage Genetic Markers Heterozygote Humans Mutation Nucleic Acid Hybridization Polymorphism, Genetic
Chemicals
DNA, Recombinant Genetic Markers DNA DNA Restriction Enzymes
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Cooper D N
Schmidtke J
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00275182
Published
1984-00-00
Pages
1-16
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00275182 View journal details
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