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Human Molecular Genetics Advance Access originally published online on August 5, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R167-R172
DOI: 10.1093/hmg/ddg257
© 2003 Oxford University Press

The Newfoundland population: a unique resource for genetic investigation of complex diseases{dagger}

Proton Rahman1,2,*, Albert Jones3, Joseph Curtis4, Sylvia Bartlett5, Lynette Peddle5, Bridget A. Fernandez2 and Nelson B. Freimer6

1Department of Medicine, 2Department of Genetics, 3Department of History and 4Department of Pediatrics, Memorial University of Newfoundland, St Johns, Newfoundland, Canada, 5Newfound Genomics and Center for Neurobehavioral Genetics, St Johns, Newfoundland, Canada and 6Departments of Psychiatry and Human Genetics, UCLA, Los Angeles, CA, USA

Received June 23, 2003; Accepted July 29, 2003

The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. The Newfoundland population, like that of other isolates, is now the focus of interest for identification of genes implicated in common diseases. However, the utility of such populations for this purpose remains unproven. In this paper, we review the current genetic architecture of the province, with respect to geographic isolation, homogeneity, founder effect, genetic drift and extended linkage disequilibrium. Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates.

{dagger} Newfound Genomics is a private genomics company based in Newfoundland. Sylvia Bartlett and Lynette Peddle are laboratory scientists at Newfound Genomics. Dr Rahman is a consultant to Newfound Genomics. No other authors have a conflict of interest regarding this manuscript.

* To whom correspondence should be addressed at: St Clare's Mercy Hospital, Memorial University of Newfoundland, 1 South, 154 LeMarchant Rd, St John's, Newfoundland, Canada A1C 5B8. Tel: +1 7097775732; Fax: +1 7097775212; Email: prahman{at}mun.ca


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