Skip to main content

DNA Polymorphisms and Analysis of Hyperlipidaemia

  • Chapter
Human Apolipoprotein Mutants

Part of the book series: NATO ASI Series ((NSSA,volume 112))

  • 32 Accesses

Abstract

Which genes are of interest in the study of inherited factors that predispose an individual to develop hyperlipidaemia? Table I shows a list of candidate genes that are known to be involved in the metabolism of cholesterol and triglycerides. Even though the list is not comprehensive, there is clearly a problem of how to decide which genes to study first. Some of the candidates, such as the LDL receptor, are already clearly implicated and warrant a detailed study, which would involve the isolation of the gene from patients for sequencing, and the identification of the defect at the DNA level.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. V.J. Kidd, R.B. Wallace and K. Itakura, ∝ 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene, Nature 304:230–234, (1983).

    Article  Google Scholar 

  2. S. E. Humphries, L. Williams, O. Myklebost, A. F. H. Stalenhoef, P. N.M. Demacker, G. Baggio, G. Crepaldi, D.J. Galton and R. Williamson, Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families. Hum. Genet. 67:151–155 (1984).

    Article  Google Scholar 

  3. S.E. Humphries, A.M. Kessling, B. Horsthemke, J.A. Donald, M. Seed, N.I. Jowett, M. Holm, D.J. Galton, V. Wynn and R. Williamson, A common DNA polymorphism of the Low Density Lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet, I:1003–1005 (1985).

    Article  Google Scholar 

  4. G. Utermann, K.H. Vogelberg, A. Steinmetz, W. Shoenborn, N. Pruin, M. Jaeschke, M. Hees and H. Canzler, Polymorphisms of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. Clin. Genet. 15:37–62 (1979).

    Article  Google Scholar 

  5. S.K. Karathanasis, J. McPherson, V.I. Zannis and J.L. Breslow, Linkage of human apolipoprotein AI and CIII genes. Nature 304:371–373.

    Google Scholar 

  6. O. Schamaun, B. Olaisen, B. Mevag, T. Gedde-Dahl, C. Ehnholm and P. Teisberg, The two apolipoprotein loci apo A-I and apo A-IV are closely linked in man, Hum. Genet. 68: 181–184 (1984).

    Article  Google Scholar 

  7. S. E. Humphries, K. Berg, L. Gill, A.M. Cumming, F.W. Robertson, A.F.H. Stalenhoef, R. Williamson and A-L. Borresen, The gene for apolipoprotein CII is closely linked to the gene for apolipoprotein E on chromosome 19, Clin. Genet. 26:389–396, (1984).

    Article  Google Scholar 

  8. J.A. Donald, S.C. Wallis, A. Kessling, P. Tippett, E. B. Robson, S. Ball, K.E. Davies, P. Scambler, K. Berg, A. Heiberg, R. Williamson and S.E. Humphries, Linkage relationships of the gene for apo1ipoprotein CII with loci on chromosome 19, Hum. Genet, 69:39–43. (1985).

    Article  Google Scholar 

  9. S.E. Humphries, N.I. Jowett, A. Kessling, J.A. Donald, S.C. Wallis and R. Williamson, The use of recombinant DNA technology to study polygenic hyperlipidaemia, Cologne Atherosclerosis Meeting II Lipids. Ed. M.J. Parnham, pp 35–40, (1984).

    Google Scholar 

  10. S.E. Antonarakis, H.H. Hazazain and S.H. Orkin, DNA polymorphism and molecular pathology of the human globin gene clusters, Hum. Genet. 69:1–14 (1985).

    Article  Google Scholar 

  11. S.E. Humphries, N.I. Jowett, L. Williams, A. Rees, M. Vella, A. Kessling, O. Myklebost, A. Lydon, M. Seed, D.J. Galton and R. Williamson, A DNA polymorphism adjacent to the human apolipoprotein CII gene, Molecular Biology and Medicine 1:463–471 (1984).

    Google Scholar 

  12. A. Rees, J. Stocks, C.C. Shoulders, D.J. Galton and F.E. Barralle, DNA polymorphism adjacent to human apoprotein AI gene: relation to hypertriglyceridaemia, Lancet I:444–446 (1983).

    Article  Google Scholar 

  13. A.M. Kessling, B. Horsthemke and S.E. Humphries, A study of DNA polymorphisms around the human Apolipoprotein, Clin. Genet., submitted, (1985).

    Google Scholar 

  14. J. Scott, T.J. Knott, L.M. Priestley, M.E. Robertson, D.V. Mann, G. Kostner, G.J. Miller and N.E. Miller, High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man, Lancet, 6th April, 771–773.

    Google Scholar 

  15. S.C. Wallis, J.A. Donald, L.A. Forrest, R. Williamson and S.E. Humphries, The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene, Hum. Genet., 68:286–289 (1984).

    Article  Google Scholar 

  16. F. Tata, I. Henry, A.F. Markham, S.C. Wallis, D. Weil, K.H. Grzeschik, C. Junien, R. Williamson and S.E. Humphries, Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19, Hum. Genet., 69:345–349.

    Google Scholar 

  17. M Azoulay, I. Henry, F. Tata, D. Weil,K. H. Grezchik.E. Chaves, N. McIntyre, R. Williamson, S.E. Humphries and C. Junien, The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16 q 22, Annals Hum. Genet. submited (1985).

    Google Scholar 

  18. S.E. Humphries, I. Henry, F. Tata, F. Banchard, M. Holm, R. Williamson and C. Junien, The gene for HMG-CoA reductase is on human chromosome 5, EMBO J. submitted, 1985.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1986 Springer Science+Business Media New York

About this chapter

Cite this chapter

Humphries, S.E., Talmud, P.J., Williamson, R. (1986). DNA Polymorphisms and Analysis of Hyperlipidaemia. In: Sirtori, C.R., Nichols, A.V., Franceschini, G. (eds) Human Apolipoprotein Mutants. NATO ASI Series, vol 112. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9474-1_2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-9474-1_2

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4615-9476-5

  • Online ISBN: 978-1-4615-9474-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics