Skip to main content

Retinal Degenerative Disorders in Southern Africa: A Molecular Genetic Approach

  • Conference paper
Retinal Degenerations

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 533))

Abstract

For genetics researchers, the DNA from our populations is our most precious commodity. We have previously indicated that the population stratifications in South Africa are likely to be a major asset in our RDD investigations. The most recent published population statistics are from the South African (SA) Census 1996 and this revealed that there were 40.58 million people in SA (http:www.gov.za/yearbook/2001/landpeople.html), classified as follows:

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 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover 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

  • de Villiers, J.N.P., Hillerman, R., de Jong, G., Langenhoven, E., Rossouw, H., Marx, M., and Kotze, M., 1999, High prevalence of the Cys282Tyr HF mutation facilities an improved diagnostic service for hereditary haemochromatosis in South Africa, S. Afr. Med. J. 89:279–282.

    PubMed  Google Scholar 

  • Greenberg, J., Bartmann, L., Ramesar, R., and Beighton, P., 1993, Retinitis pigmentosa in South Africa, Clin Genet. 44:232–235.

    Article  PubMed  CAS  Google Scholar 

  • Greenberg, J., Franz, T., Goliath, R., and Ramesar, R., 1999, A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations, S. Afr. Med. J., 89:877–878.

    CAS  Google Scholar 

  • Groenewald, J.Z., Liebenberg, J., Groenewald, I.M., and Warnich, L., 1998, Linkage disequilibrium analysis in a recently founded population: Evaluation of the variegate porphyria in Southern African Afrikaners, Am. J. Hum. Genet. 62:1254–1258.

    Article  PubMed  CAS  Google Scholar 

  • Hendricks, D., and Parker, M. I., 2002, Esophageal cancer in Africa, IUBMB Life, 53:263–268.

    Article  PubMed  CAS  Google Scholar 

  • McKie, A. B., McHale, J. C., Keen, T. J., Tarttelin, E. E., Goliath, R. R., Greenberg, J., Ramesar, R., Cremers, F. P. M., Hoyng, C. B., van Lith-Verhoeven, J.J.C., Mackey, D.A., Bhattacharaya, S.S., Bird, A.C., Markham, A.F., and Ingleheam, C.F., 2001, Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinits pigmentosa, Hum. Mol. Gen. 10:1555–1562.

    Google Scholar 

  • Oswald, A. H., Goldblatt, J., Sampson, G., Clokie, R., and Beighton, P., 1985, Retinitis pigmentosa in South Africa, S. Aft. Med. J. 68:863–866.

    CAS  Google Scholar 

  • Yeung, K. Y., Baum, L., Chan, W.M.C., Lam, D.S.C., Kwok, A.K.H., and Pang, C.P., 2001, Molecular diagnostics for retinitis pigmentosa, Clinica Chimica Acta. 313:209–215.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2003 Springer Science+Business Media New York

About this paper

Cite this paper

Ramesar, R. et al. (2003). Retinal Degenerative Disorders in Southern Africa: A Molecular Genetic Approach. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_5

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-0067-4_5

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-4909-9

  • Online ISBN: 978-1-4615-0067-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics