Human Molecular Genetics, 1999, Vol. 8, No. 10 1913-1923
© 1999 Oxford University Press
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Molecular genetics of the Finnishdisease heritage
1Department of Human MolecularGenetics, National Public Health Institute, Helsinki, Finland and 2Department of Human Genetics, UCLASchool of Medicine, 695 Charles E. Young Drive South, Los Angeles,CA 90095-7088, USA
ABSTRACT
Finland, located at the edge of the inhabitable world,is one of the best-studied genetic isolates. The characteristicfeatures of population isolates—founder effect, geneticdrift and isolation—have, over the centuries, shaped thegene pool of the Finns. Finnish diseases have been a target of extensivegenetic research and the majority of some 35 disease genes enrichedin this population have been identified; the molecular and cellular consequencesof disease mutations are currently being characterized. Specialstrategies taking advantage of linkage disequilibrium have beenefficiently used in the initial mapping and restriction of Finnishdisease loci and this has stimulated development of novel statisticalapproaches in the disease gene hunt. Identification of mutated geneshas provided tools for detailed analyses of molecular pathogenesisin Finnish diseases, many of which reveal a distinct tissue specificityof clinical phenotype. Often these studies have not only clarifiedthe molecular detail of Finnish diseases, but also provided novelinformation on biological processes and metabolic pathways essentialfor normal development and function of human cells and tissues.
FOOTNOTES
a To whomcorrespondence should be addressed at: Department of Human Genetics,UCLA School of Medicine, 695 Charles E.Young Drive South, Los Angeles, CA90095-7088, USA. Tel: +1 310 794 5631; Fax: +1310 794 5446; Email: lpeltonen{at}mednet.ucla.edu
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