Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1992-11

AUTHORS

J Hästbacka, A de la Chapelle, I Kaitila, P Sistonen, A Weaver, E Lander

ABSTRACT

Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fraction between a disease locus and a marker; (ii) the expected degree of allelic homogeneity in a population; and (iii) the mutation rate of marker loci. Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. Predictions about allelic homogeneity in Finland and mutation rates in simple sequence repeats are confirmed by independent observations. More... »

PAGES

204-211

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1192-204

DOI

http://dx.doi.org/10.1038/ng1192-204

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049816422

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1345170


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