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DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

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Summary

The genes coding for apolipoproteins A1, C3, and A4 (APOA1, APOC3, APOA4) are closely linked and tandemly organized within a 15-kilobase (kb) DNA segment on the long arm of human chromosome 11. The nucleotide variability of a 61-kb DNA segment containing these genes and their flanking sequences was studied by restriction analysis of a sample of 18 unrelated Northern Europeans using seven different genomic DNA probes. Eleven restriction site polymorphisms located within this DNA segment were used for haplotype analysis of 129 Mediterranean and 67 American black chromosomes. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium within the APOA1-APOC3-APOA4 gene cluster. Several haplotypes arose by recombination, and the rate of recombination within this gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. The polymorphism information content of each of these polymorphisms, taken individually, ranges between 0.053 and 0.375, while that of their haplotypes ranges between 0.858 and 0.862. Therefore, DNA polymorphism haplotypes in the APOA1-APOC3-APOA4 gene cluster constitute a highly informative genetic marker on the long arm of human chromosome 11.

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Authors and Affiliations

  1. Genetics Unit, Department of Pediatrics, The Johns Hopkins University School of Medicine, 21205, Baltimore, MD, USA

    Stylianos E. Antonarakis & Lila Feisee

  2. Laboratory of Molecular and Cellular Cardiology, Department of Cardiology, Childrens' Hospital, 02115, Boston, MA, USA

    Peter Oettgen & Sotirios K. Karathanasis

  3. Department of Pediatrics, Harvard Medical School, 02115, Boston, MA, USA

    Peter Oettgen & Sotirios K. Karathanasis

  4. Department of Biostatistics, University of Pittsburgh, 15261, Pittsburgh, PA, USA

    Aravinda Chakravarti & Susan L. Halloran

  5. National Institute of Environmental Health Sciences, 27709, Research Triangle Park, NC, USA

    Richard R. Hudson

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  1. Stylianos E. Antonarakis
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  2. Peter Oettgen
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  3. Aravinda Chakravarti
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  4. Susan L. Halloran
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  5. Richard R. Hudson
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  6. Lila Feisee
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  7. Sotirios K. Karathanasis
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Antonarakis, S.E., Oettgen, P., Chakravarti, A. et al. DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet 80, 265–273 (1988). https://doi.org/10.1007/BF01790095

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  • DOI: https://doi.org/10.1007/BF01790095

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