Cosmopolitan linkage disequilibrium maps
<p>Abstract</p> <p>Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Polymorphisme Humain and other panels, and have been...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2005-03-01
|
| Series: | Human Genomics |
| Subjects: | |
| Online Access: | http://www.humgenomics.com/content/2/1/20 |
| _version_ | 1798042053307793408 |
|---|---|
| author | Gibson Jane Tapper William Zhang Weihua Morton Newton Collins Andrew |
| author_facet | Gibson Jane Tapper William Zhang Weihua Morton Newton Collins Andrew |
| author_sort | Gibson Jane |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Polymorphisme Humain and other panels, and have been widely used. Now that attention has shifted towards identifying genes predisposing to common disorders using linkage disequilibrium (LD) and maps of single nucleotide polymorphisms (SNPs), it is of interest to consider a standard LD map which is somewhat analogous to the corresponding map for linkage. We have constructed and evaluated a cosmopolitan LD map by combining samples from a small number of populations using published data from a 10-megabase region on chromosome 20. In support of a pilot study, which examined a number of small genomic regions with a lower density of markers, we have found that a cosmopolitan map, which serves all populations when appropriately scaled, recovers 91 to 95 per cent of the information within population-specific maps. Recombination hot spots appear to have a dominant role in shaping patterns of LD. The success of the cosmopolitan map might be attributed to the co-localisation of hot spots in all populations. Although there must be finer scale differences between populations due to other processes (mutation, drift, selection), the results suggest that a whole-genome standard LD map would indeed be a useful resource for disease gene mapping.</p> |
| first_indexed | 2024-04-11T22:30:06Z |
| format | Article |
| id | doaj.art-3f97706beeea42c3b159383dacea2c8e |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-11T22:30:06Z |
| publishDate | 2005-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-3f97706beeea42c3b159383dacea2c8e2022-12-22T03:59:26ZengBMCHuman Genomics1479-73642005-03-0121202710.1186/1479-7364-2-1-20Cosmopolitan linkage disequilibrium mapsGibson JaneTapper WilliamZhang WeihuaMorton NewtonCollins Andrew<p>Abstract</p> <p>Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Polymorphisme Humain and other panels, and have been widely used. Now that attention has shifted towards identifying genes predisposing to common disorders using linkage disequilibrium (LD) and maps of single nucleotide polymorphisms (SNPs), it is of interest to consider a standard LD map which is somewhat analogous to the corresponding map for linkage. We have constructed and evaluated a cosmopolitan LD map by combining samples from a small number of populations using published data from a 10-megabase region on chromosome 20. In support of a pilot study, which examined a number of small genomic regions with a lower density of markers, we have found that a cosmopolitan map, which serves all populations when appropriately scaled, recovers 91 to 95 per cent of the information within population-specific maps. Recombination hot spots appear to have a dominant role in shaping patterns of LD. The success of the cosmopolitan map might be attributed to the co-localisation of hot spots in all populations. Although there must be finer scale differences between populations due to other processes (mutation, drift, selection), the results suggest that a whole-genome standard LD map would indeed be a useful resource for disease gene mapping.</p>http://www.humgenomics.com/content/2/1/20linkage disequilibriumsingle nucleotide polymorphismgenetic mapmap integration |
| spellingShingle | Gibson Jane Tapper William Zhang Weihua Morton Newton Collins Andrew Cosmopolitan linkage disequilibrium maps Human Genomics linkage disequilibrium single nucleotide polymorphism genetic map map integration |
| title | Cosmopolitan linkage disequilibrium maps |
| title_full | Cosmopolitan linkage disequilibrium maps |
| title_fullStr | Cosmopolitan linkage disequilibrium maps |
| title_full_unstemmed | Cosmopolitan linkage disequilibrium maps |
| title_short | Cosmopolitan linkage disequilibrium maps |
| title_sort | cosmopolitan linkage disequilibrium maps |
| topic | linkage disequilibrium single nucleotide polymorphism genetic map map integration |
| url | http://www.humgenomics.com/content/2/1/20 |
| work_keys_str_mv | AT gibsonjane cosmopolitanlinkagedisequilibriummaps AT tapperwilliam cosmopolitanlinkagedisequilibriummaps AT zhangweihua cosmopolitanlinkagedisequilibriummaps AT mortonnewton cosmopolitanlinkagedisequilibriummaps AT collinsandrew cosmopolitanlinkagedisequilibriummaps |