Advertisement

The Human Chromosome Map

  • T. Andrews

Abstract

In order to map the human genome, the gene, as indicated by expressed gene products, abnormal phenotypes, or markers representing it, must first be assigned to a particular chromosome (from Greek, khroma, colour, and soma, body). For some genes, analysis of pedigree data alone may confirm their localisation. The first gene assignment, in 1911, came with the demonstration that red-green colour blindness followed an X-linked pattern of inheritance, and the gene was therefore located on the X chromosome. This human gene assignment was made at a time when there was no physical evidence for the chromosomal sex-determining mechanism in man and long before the chromosome number had been determined

Keywords

Human Chromosome Angelman Syndrome Specific Chromosome Region Structural Chromosome Abnormality Chromosome Banding Technique 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Bloom, S. E. and C. Goodpasture (1976) ‘An improved method for selective silver staining of nucleolar organiser regions in human chromosomes’, Human Genetics vol. 34, pp. 199–206.CrossRefPubMedGoogle Scholar
  2. Caspersson, T., G. Lomakka and L. Fech (1971) ‘The 24 fluorescence patterns of the human metaphase chromosomes — distinguishing characteristics and variability’, Hereditas, vol. 67, pp. 89–102.CrossRefGoogle Scholar
  3. Buckle, V. J. and I. W. Craig (1986) ‘In situ hybridisation’, in K. E. Davies (ed.) Human Genetic Disease — a Practical Approach ( Oxford: IRL Press ).Google Scholar
  4. Connor, J. M. and M. A. Ferguson-Smith (1987) Essential medical genetics ( Oxford: Blackwell Scientific Publications).Google Scholar
  5. Davies, K. E. and A. P. Read (1988) Molecular basis of inherited disease ( Oxford: IRL Press).Google Scholar
  6. Donnai, D. and T. Andrews (1988) ‘Screening for Down’s syndrome’, BMJ, vol. 297, pp. 876.PubMedCentralCrossRefPubMedGoogle Scholar
  7. Ferguson-Smith, M. A., B. F. Newman, P. M. Ellis et al. (1973) ‘Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2’, Nature, vol. 243, pp. 271–4.CrossRefGoogle Scholar
  8. Ford, C. E. and J. L. Hamerton (1956) ‘The chromosomes of man’, Nature, vol. 178, pp. 1010–23.CrossRefGoogle Scholar
  9. Franke, U. (1983) ‘Gene mapping’, in A. E. H. Emery and D. L. Rimoin (eds) Principles and Practice of Medical Genetics ( London: Churchill Livingstone ).Google Scholar
  10. Hawkey, C. J. and A. Smith (1976) ‘The Prader-Willi syndrome with a 15/15 translocation’, J. Med. Gen., vol. 13, pp. 152–6.CrossRefGoogle Scholar
  11. Malcolm, S., P. Barton and C. Murphy et al. (1982) ‘Localisation of immunoglobulin kappa light chain variable region genes to the short arms of chromosome 2 by in situ hybridisation’, Proceedings of the National Academy of Science (USA), vol. 79, pp. 4957–61.CrossRefGoogle Scholar
  12. Malcolm, S., J. K. Cowell and B. D. Young (1986) ‘Specialist techniques in research and diagnostic clinical cytogenetics’, in D. E. Rooney and B. H. Czepulkowski (eds) Human Cytogenetics — A Practical Approach ( Oxford: IRL Press ).Google Scholar
  13. McKeown, C., A. P. Read, A. Dodge et al. (1987) ‘ Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4’, J.Med. Gen., vol. 24, pp. 410–12.CrossRefGoogle Scholar
  14. Painter, T. S. (1923) ‘Studies in mammalian spermatogenesis. II The spermatogenesis of man’, J. Experimental Zoology, vol. 37, pp. 291–5.CrossRefGoogle Scholar
  15. Pembrey, M., S. J. Fennell, J. Van den Berghe et al. (1988) ‘The association of Angelman syndrome and deletions within 15q11–13’, J.Med. Gen., vol. 25, p. 274.CrossRefGoogle Scholar
  16. Schwiezer, D., P. Ambros and M. Andrle (1978) ‘Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A’, Experimental Cell Research, vol. 111, pp. 327–32.CrossRefGoogle Scholar
  17. Seabright, M. (1971) ‘A rapid banding technique for human chromosomes’, Lancet, no. ii, pp. 971–2.CrossRefPubMedGoogle Scholar
  18. Sumner, A. T. (1972) ‘A simple technique for demonstrating centromeric heterochromatin’, Experimental Cell Research, vol. 75, pp. 302–6.CrossRefGoogle Scholar
  19. Tjio, J. H. and A. Levan (1956) ‘The chromosome number of man’, Hereditas, vol. 42, pp. 1–6.CrossRefGoogle Scholar
  20. Wald, N. J., H. S. Cuckle, J. W. Densem et al. (1988) ‘Maternal serum screening for Down’s syndrome in early pregnancy’, BMJ, vol. 297, pp. 883–7.PubMedCentralCrossRefPubMedGoogle Scholar
  21. Winiwarter, H. van (1912) ‘Etudes sur la spermatogenèse humaine’, Arch. Biol. (Liege), vol. 27, pp. 91–184.Google Scholar
  22. Young, B. D. (1986) ‘Human chromosome analysis by flow cytometry’, in K. E. Davies (ed.) Human Genetic Disease — A Practical Approach (Oxford: IRL Press)Google Scholar
  23. Yunis, J. J. (1976) ‘High resolution of human chromosomes’, Science, vol. 191, pp. 1268–70.CrossRefPubMedGoogle Scholar
  24. Yunis, J. J. (1981) ‘Mid-prophase human chromosomes. The attainment of 2000 bands’, Human Genetics, vol. 56, pp. 293–8.CrossRefPubMedGoogle Scholar

Copyright information

© The Galton Institute 1991

Authors and Affiliations

  • T. Andrews

There are no affiliations available

Personalised recommendations