Genetic epidemiology, genetic maps and positional cloning

• Published in: Philosophical transactions of the Royal Society of London. Series B. Biological sciences Vol. 358; no. 1438; pp. 1701 - 1708
• Main Author: Morton, Newton E.
• Format: Journal Article
• Language: English
• Published: England The Royal Society 29.10.2003
• Subjects: Biobank; Chromosome Mapping; DNA; Epidemiology; Ethics; Evolutionary genetics; Forensic genetics; Genetic loci; Genetic mapping; Genetic Markers - genetics; Genetic Predisposition to Disease - epidemiology; Genetic Research - ethics; Genetic Research - legislation & jurisprudence; Genotype; Haplotypes; Haplotypes - genetics; HapMap; Human genetics; Humans; Linkage; Linkage Disequilibrium; Linkage Disequilibrium - genetics; Medical genetics; Population genetics; Research Subjects; Single Nucleotide Polymorphism
• ISSN: 0962-8436; 1471-2970
• DOI: 10.1098/rstb.2003.1357

Genetic epidemiology developed in the middle of the last century, focused on inherited causes of disease but with methods and results applicable to other traits and even forensics. Early success with linkage led to the localization of genes contributing to disease, and ultimately to the Human Genome Project. The discovery of millions of DNA markers has encouraged more efficient positional cloning by linkage disequilibrium (LD), using LD maps and haplotypes in ways that are rapidly evolving. This has led to large international programmes, some promising and others alarming, with laws about DNA patenting and ethical guidelines for responsible research still struggling to be born.