Abstract
The technique of positional cloning has become a familiar component of modern human genetics research. After a halting start in the mid–1980s, the number of disease genes succumbing to cloning efforts based solely on pinpointing their position in the genome is growing exponentially. More than 40 genes have been identified so far. But the positional candidate approach, which combines knowledge of map position with the increasingly dense human transcript map, greatly expedites the search process and will soon become the predominant method of disease gene discovery. The challenge ahead is to apply such methods to identifying genes involved in complex polygenic disorders.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
Purchase on Springer Link
Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Ruddle, F.H. Am. J. hum. Genet. 36, 944–953 (1984).
Royer-Pokora, B. et al. Nature 322, 32–38 (1986).
Collins, F.S. Nature Genet. 1, 3–6 (1992).
Ballabio, A. Nature Genet. 3, 277–279 (1993).
Malkin, D. et al. Science 250, 1233–1238 (1990).
Bates, G. & Lehrach, H. Bioessays 16, 277–284 (1994).
Guyer, M. & Collins, F.S. Am. J. Dis. Child. 147, 1145–1152 (1993).
Stanbridge, E.J., 12, 5–24 (1992).
Kainulainen, K., Pulkkinen, L., Savolainen, A., Kaltila, I. & Peltonen, L. New Engl. J. Med. 323, 935–939 (1990).
Magenls, R.E., Maslen, C.L., Smith, L., Allen, L. & Sakai, L.Y. Genomics 4, 346–351 (1991).
Dietz, H.C. et al. Nature 353, 337–339 (1991).
Larimore, T.C. et al. Genomics 9, 181–192 (1991).
Mulligan, L.M. et al. Nature 363, 458–460 (1993).
Edery, P. et al. Nature 367, 378–380 (1994).
Shiang, R. et al. Cell 78, 335–342 (1994).
Thompson, L.M. et al. Genomics 11, 1133–1142 (1991).
Leach, F.S. et al. Cell 75, 1215–1225 (1993).
Papadopoulos, N. et al. Science 283, 1559–1560 (1994).
Nicolaides, N.C. et al. Nature 371, 75–80 (1994).
Lander, E.S. & Schork, N.J. Science 265, 2037–2048 (1994).
Davies, J. et al. Nature 371, 130–136 (1994).
Bennett, S.T. et al. Nature Genet. 9, 284–291 (1995).
Hastbacka, J. et al. Cell 78, 1073–1087 (1994).
Pease, A.C. et al. Proc. natn. Acad. Sci. U.S.A. 91, 5022–5026 (1994).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Collins, F. Positional cloning moves from perditional to traditional. Nat Genet 9, 347–350 (1995). https://doi.org/10.1038/ng0495-347
Issue Date:
DOI: https://doi.org/10.1038/ng0495-347
This article is cited by
-
Regulation of omega-3 fatty acids production by different genes in freshwater fish species: a review
Fish Physiology and Biochemistry (2023)
-
Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients
Molecular Cancer (2014)
-
A systems-biology approach to understanding the ciliopathy disorders
Genome Medicine (2011)
-
Exome sequencing makes medical genomics a reality
Nature Genetics (2010)
-
An optimal DNA pooling strategy for progressive fine mapping
Genetica (2009)