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
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References
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.
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.
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 ).
Connor, J. M. and M. A. Ferguson-Smith (1987) Essential medical genetics ( Oxford: Blackwell Scientific Publications).
Davies, K. E. and A. P. Read (1988) Molecular basis of inherited disease ( Oxford: IRL Press).
Donnai, D. and T. Andrews (1988) ‘Screening for Down’s syndrome’, BMJ, vol. 297, pp. 876.
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.
Ford, C. E. and J. L. Hamerton (1956) ‘The chromosomes of man’, Nature, vol. 178, pp. 1010–23.
Franke, U. (1983) ‘Gene mapping’, in A. E. H. Emery and D. L. Rimoin (eds) Principles and Practice of Medical Genetics ( London: Churchill Livingstone ).
Hawkey, C. J. and A. Smith (1976) ‘The Prader-Willi syndrome with a 15/15 translocation’, J. Med. Gen., vol. 13, pp. 152–6.
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.
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 ).
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.
Painter, T. S. (1923) ‘Studies in mammalian spermatogenesis. II The spermatogenesis of man’, J. Experimental Zoology, vol. 37, pp. 291–5.
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.
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.
Seabright, M. (1971) ‘A rapid banding technique for human chromosomes’, Lancet, no. ii, pp. 971–2.
Sumner, A. T. (1972) ‘A simple technique for demonstrating centromeric heterochromatin’, Experimental Cell Research, vol. 75, pp. 302–6.
Tjio, J. H. and A. Levan (1956) ‘The chromosome number of man’, Hereditas, vol. 42, pp. 1–6.
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.
Winiwarter, H. van (1912) ‘Etudes sur la spermatogenèse humaine’, Arch. Biol. (Liege), vol. 27, pp. 91–184.
Young, B. D. (1986) ‘Human chromosome analysis by flow cytometry’, in K. E. Davies (ed.) Human Genetic Disease — A Practical Approach (Oxford: IRL Press)
Yunis, J. J. (1976) ‘High resolution of human chromosomes’, Science, vol. 191, pp. 1268–70.
Yunis, J. J. (1981) ‘Mid-prophase human chromosomes. The attainment of 2000 bands’, Human Genetics, vol. 56, pp. 293–8.
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© 1991 The Galton Institute
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Andrews, T. (1991). The Human Chromosome Map. In: Roberts, D.F., Chester, R. (eds) Molecular Genetics in Medicine. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-10874-9_2
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DOI: https://doi.org/10.1007/978-1-349-10874-9_2
Publisher Name: Palgrave Macmillan, London
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