Gene mapping and positional cloning are used to identify a gene or genes that, when variant or mutated, contribute to the causation of a genetically defined disorder or condition.
Keywords: disorders; genetic; single; multigenic; common; variations
Peter FR Little, University of New South Wales, Sydney, Australia
Published online: September 2005
DOI: 10.1038/npg.els.0005370
Gene mapping and positional cloning are used to identify a gene or genes that, when variant or mutated, contribute to the causation of a genetically defined disorder or condition.
Keywords: disorders; genetic; single; multigenic; common; variations
| Further Reading | |
| Church DM and Buckler AJ (1999). Gene identification by exon amplification. Methods in Enzymology 303: 8399. | |
| Deloukas P, Schuler GD, Gyapay G, et al. (1998) A physical map of 30000 human genes. Science 282: 744746. | |
| Flavell RA, Kooter JM, De Boer E, Little PF and Williamson R (1978) Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell 15: 2541. | |
| Riordan JR, Rommens JM, Kerem B, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 10661073. | |
| Simmons AD and Lovett M (1999) Direct cDNA selection using large genomic DNA targets. Methods in Enzymology 303: 111126. | |
| The International Human Genome Mapping Consortium (2001) A physical map of the human genome. Nature 409: 934941. | |
| Web Links | |
| ePath Celera Genomics. http://public.celera.com/index.cfm | |
| ePath Ensemble Project. http://www.ensembl.org/ | |
| ePath NCBI (National Center for Biotechnology Information). http://www.ncbi.nlm.nih.gov/ | |
| ePath UCSC Genome Bioinformatics. http://genome.ucsc.edu/index.html | |