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Fine scale association mapping of disease loci using simplex families

Fine scale association mapping of disease loci using simplex families We present a new method for the fine scale mapping of disease loci based on samples of simplex families, each containing an affected child. The method is based on a generalisation of a single locus allele transmission model to multiple marker loci. The model is developed under the assumption of a single ancestral mutation and allows for the calculation of posterior probabilities that each allele at a particular marker was present on the founder chromosome. We illustrate the method using simulated family data for cystic fibrosis and Huntingtons disease, for which the locations of mutations in the disease genes are now known. For both diseases, our new method provides good estimates of the location of the mutations. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Fine scale association mapping of disease loci using simplex families

Annals of Human Genetics , Volume 64 (3) – Jan 1, 2000

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References (28)

Publisher
Wiley
Copyright
Copyright © 2000 Wiley Subscription Services
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1046/j.1469-1809.2000.6430223.x
Publisher site
See Article on Publisher Site

Abstract

We present a new method for the fine scale mapping of disease loci based on samples of simplex families, each containing an affected child. The method is based on a generalisation of a single locus allele transmission model to multiple marker loci. The model is developed under the assumption of a single ancestral mutation and allows for the calculation of posterior probabilities that each allele at a particular marker was present on the founder chromosome. We illustrate the method using simulated family data for cystic fibrosis and Huntingtons disease, for which the locations of mutations in the disease genes are now known. For both diseases, our new method provides good estimates of the location of the mutations.

Journal

Annals of Human GeneticsWiley

Published: Jan 1, 2000

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