An estimate of unique DNA sequence heterozygosity in the human genome

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Smith, Barbara A., Cooke, Howard J., Niemann, Susanne and Schmidtke, Jorg 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Human Genetics 69 (3) , pp. 201-205. 10.1007/BF00293024

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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 unbiassed 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:22
URI:	https://orca.cardiff.ac.uk/id/eprint/62081

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