Finding Disease-Causing Genes


Among the 4000 known human genetic disorders, only a handful of disease-causing genes have been mapped. To locate a gene (say an average of 10,000 bp length) in the midst of a 3.2 billion bp chromosomal DNA is hardly a simple task.


Splice Site Variable Number Tandem Repeat Yeast Artificial Chromosome Chromosome Walking Exon Splice Site 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Chapter 17: Finding Disease-Causing Genes

  1. Anand, R. 1992. Yeast artificial chromosomes (YACs) and the analysis of complex genomes. Trends Biotechnol. 10, 35–40.PubMedCrossRefGoogle Scholar
  2. Buckler, A. J., Chang, D. D., Graw, S. L., Brook, D., Haber, D. A., Sharp, P. A., and Housman, D. E. 1991. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88, 4005–4009.PubMedCrossRefGoogle Scholar
  3. Collins, F. S. 1991. Of needles and haystacks: Finding human disease genes by positional cloning. Clin. Res. 39, 615–623.PubMedGoogle Scholar
  4. Halaas, J. L., Gajiwala, K. S., Maffei, M., Cohen, S. L., Chaiti, B. T., Rabinowitz, D., Lallone, R. L., Burley, S. K., Friedman, J. M. 1995. Weight-reducing effects of the plasma protein encoded by the obese gene. Science 269, 543–544.PubMedCrossRefGoogle Scholar
  5. Pelleymounter, M. A., Cullen, M. J., Baker, M. B., Hecht, R., Winters, D., Boone, T., and Collins, F. 1995. Effects of the obese gene product on body weight regulation in ob/ob mice. Science 269, 540–543.PubMedCrossRefGoogle Scholar
  6. Poustka, A., Pohl, T. M., Barlow, D. P., Frischauf, A.-M., and Lehrach, H. 1987. Construction and use of human chromosome jumping libraries from NotI-digested DNA. Nature 325, 353–355.PubMedCrossRefGoogle Scholar
  7. White, R., and Lalouel, J.-M. 1988. Chromosome mapping with DNA markers. Sci. Am. 258(2), 40–48.PubMedCrossRefGoogle Scholar
  8. Zhang, Y., Proenca, R., Maffei, M., Barone, M., Leopold, L., and Friedman, J. M. 1994. Positional cloning of the mouse obese gene and its human homologue. Nature 372, 425–432.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2006

Personalised recommendations