Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. This approach works even when little or no information is available about the biochemical basis of the disease. Positional cloning is used in conjunction with linkage analysis. It involves the isolation of partially overlapping DNA segments that progress along the chromosome toward a candidate gene.
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Positional cloning is a term derived from the late 1980s which basically was to be contrasted to functional cloning, so probably we should define both. Functional cloning was finding a gene by understanding something about what its function is. So the hemophilia gene was identified by knowing there was a problem with a blood clotting factor and then figuring out what gene must have coded for that, and isolating or cloning that gene. But for most diseases, we don't have enough information to guess what the function was, so positional cloning, which came into being as a need of trying to identify the cause of things like cystic fibrosis, was a way of identifying the gene by its position in the genome. Various jokes were made about this. Some people said, oh, positional cloning is a sort of thing where you have to get into a certain position in order to do the work, or if you succeed at it you're guaranteed a position in the university. Not true. Basically, it's the position in the genome that you're trying to zero in on by a series of steps that go from a larger view to narrower view to finally zeroing in on the single base pair that's gone awry. And in many instances that's what you're looking for.
Francis S. Collins, M.D., Ph.D.
Director, National Institutes of Health; Former Director, National Human Genome Research Institute
Dr. Francis S. Collins, director of the National Institutes of Health, is noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project, a complex multidisciplinary scientific enterprise directed at mapping and sequencing human DNA. Dr. Collins was the director of the National Human Genome Research Institute from 1993 to 2008. His research has led to the identification of genetic variants associated with type 2 diabetes and the genes responsible for cystic fibrosis, neurofibromatosis, Huntington's disease and Hutchinson-Gilford progeria syndrome. In 2007, Dr. Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research.