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PMID: 2984104 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

An estimate of unique DNA sequence heterozygosity in the human genome.

Human genetics ·Vol. 69 ·No. 3 ·1985-00-00 ·Pages 201-5

Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J

Abstract

Fifteen different restriction fragment length polymorphisms (RFLPs) were detected in the human genome using 19 cloned DNA segments, derived from flow-sorted metaphase chromosomes or total genomic DNA, as hybridization probes. Since these clones were selected at random with respect to their coding potential, their analysis permitted an unbiased estimate of single-copy DNA sequence heterozygosity in the human genome. Since our estimate (h = 0.0037) is an order of magnitude higher than previous estimates derived from protein data, most of the polymorphic variation present in the genome must occur in non-coding sequences. In addition, it was confirmed that enzymes containing the dinucleotide CpG in their recognition sequence detect more polymorphic variation than those that do not contain CpG.

MeSH Terms
Base Sequence Cloning, Molecular DNA/genetics DNA Restriction Enzymes Heterozygote Humans Polymorphism, Genetic
Chemicals
DNA DNA Restriction Enzymes
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Cooper D N
Smith B A
Cooke H J
Niemann S
Schmidtke J
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21 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00293024
Published
1985-00-00
Pages
201-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00293024 View journal details
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