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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Dawson, E. Kataja, V. Carlomagno, F. Mannermaa, A. Luben, R. N. Lai, E. Xu, C. F. Rhodes, S. Dunning, A. M. Ponder, B. A. Healey, C. S. Rennart, G. Ueda, S. Van Rensburg, E. J. Purvis, I. Durocher, F. Teare, M. D. Easton, D. Dunham, I. McBride, S. E. |
| Spatial Coverage | Africa Finland |
| Description | Country affiliation: United kingdom Author Affiliation: Dunning AM ( CRC Department of Oncology, University of Cambridge, Cambridge CB1 8RN, United Kingdom. alisond@srl.cam.ac.uk) |
| Abstract | The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with minor allele frequencies >.1, since these are most comparable to the common disease-susceptibility polymorphisms that association studies aim to detect. The markers come from three chromosomal regions-1,335 kb on chromosome 13q12-13, 380 kb on chromosome 19q13.2, and 120 kb on chromosome 22q13.3-which have been extensively mapped. These markers were examined in approximately 1,600 individuals from four populations, all of European origin but with different demographic histories; Afrikaners, Ashkenazim, Finns, and East Anglian British. There are few differences, either in allele frequencies or in LD, among the populations studied. A similar inverse relationship was found between LD and distance in each genomic region and in each population. Mean D' is.68 for marker pairs <5 kb apart and is.24 for pairs separated by 10-20 kb, and the level of LD is not different from that seen in unlinked marker pairs separated by >500 kb. However, only 50% of marker pairs at distances <5 kb display sufficient LD (delta>.3) to be useful in association studies. Results of the present study, if representative of the whole genome, suggest that a whole-genome scan searching for common disease-susceptibility alleles would require markers spaced < or = 5 kb apart. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 67 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2000-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosome Mapping Genetic Predisposition To Disease Genetics Linkage Disequilibrium Phylogeny Africa Ethnology Alleles Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 22 Demography Finland Gene Frequency Genetic Markers Genotype Jews Polymorphism, Genetic Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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