12:00 AM
Mar 01, 1999
 |  BioCentury  |  Tools & Techniques

Founder population studies

The identification of disease-associated genes through the use of human genetic studies is difficult due to the often limited availability of suitable affected families, DNA samples and variability in physician diagnosis associated with such studies. To gain some advantage, researchers - including a number of biotech companies - have turned to small inbred populations with the goal of increasing the chances of identifying genetic markers linked to diseases found in those populations. Examples of founder populations include the island of Tristan da Cunha, Iceland, Finland and the Canadian province of Quebec.


BioCentury, Feb. 22). Human genetics depends upon one main form of analysis to tell whether two genetic markers are linked (for example, whether a DNA polymorphism is linked to a disease gene), called linkage disequilibrium. This can be represented by the two loci A and B, each with two different forms (alleles). As described in a commentary accompanying the PNAS article, "if the distributions of alleles at the two loci were independent of each other, the four haplotypes A1B1, A1B2, A2B1, and A2B2 would occur with equal frequency. A...

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