There is great interest in the patterns and extent of linkage disequilibrium (LD) in humans and other species. Characterizing LD is of central importance for gene-mapping studies and …
B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu… - 2003 - deepblue.lib.umich.edu
The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in …
Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they …
RL Cann, M Stoneking, AC Wilson - Nature, 1987 - nature.com
Mitochondrial DNAsfrom 147 people, drawn from five geographic populations have been analysed by restriction mapping. All these mitochondrial DMAs stem from one woman who is …
In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics …
CS Carlson, MA Eberle, MJ Rieder, Q Yi… - The American Journal of …, 2004 - cell.com
Common genetic polymorphisms may explain a portion of the heritable risk for common diseases. Within candidate genes, the number of common polymorphisms is finite, but direct …
WG Hill, BS Weir - Theoretical population biology, 1988 - Elsevier
Abstract Analysis of linkage disequilibrium D among restriction sites or bases in DNA sequences, arising from mutations in finite populations, depends on a knowledge of the …
Five different measures of gametic disequilibrium in current use and a new one based on RC Lewontin's D′, are examined and compared. All of them, except the measure based on …