An estimate of unique DNA sequence heterozygosity in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1985-03

AUTHORS

David N. Cooper, Barbara A. Smith, Howard J. Cooke, Susanne Niemann, Jörg Schmidtke

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. More... »

PAGES

201-205

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00293024

DOI

http://dx.doi.org/10.1007/bf00293024

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050182198

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2984104


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