An estimate of unique DNA sequence heterozygosity in the human genome - PubMed (original) (raw)

• PMID: 2984104
• DOI: 10.1007/BF00293024

An estimate of unique DNA sequence heterozygosity in the human genome

D N Cooper et al. Hum Genet. 1985.

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.

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References

1. 1. J Mol Biol. 1977 Jun 15;113(1):237-51 - PubMed
2. 1. Hum Genet. 1983;64(4):315-33 - PubMed
3. 1. Biochem Biophys Res Commun. 1966 Jun 13;23(5):641-6 - PubMed
4. 1. Nucleic Acids Res. 1980 Apr 11;8(7):1499-504 - PubMed
5. 1. J Mol Evol. 1977 Apr 29;9(2):159-80 - PubMed

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