Positional cloning: A review and perspective

✍ Scribed by Roger K. Wolff

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 132 KB
• Volume: 41
• Category: Article
• ISSN: 0272-4391
• DOI: 10.1002/(sici)1098-2299(199707/08)41:3/4<129::aid-ddr4>3.0.co;2-n

✦ Synopsis

Positional cloning has attained prominence in the biomedical field through its ability to unravel the molecular basis of many elusive diseases, including cystic fibrosis, Huntington disease, and breast cancer. The strength of positional cloning is in its ability to identify a disease gene without prior knowledge of the inherent biochemical defect. The process involves collection and characterization of families or populations of individuals segregating a disorder, localizing the defective gene to a chromosomal region, cloning all of the DNA, identifying all of the genes, and testing the genes for mutations that associate with the disease. Having identified the genetic cause of a disease, analysis turns toward functional elucidation. Dissection of the biochemical pathway provides rational targets for drug discovery by providing biologically relevant molecules for screening.