Complete MHC Haplotype Sequencing for Common Disease Gene Mapping. Stewart, C. A., Horton, R., Allcock, R. J. N., Ashurst, J. L., Atrazhev, A. M., Coggill, P., Dunham, I., Forbes, S., Halls, K., Howson, J. M. M., Humphray, S. J., Hunt, S., Mungall, A. J., Osoegawa, K., Palmer, S., Roberts, A. N., Rogers, J., Sims, S., Wang, Y., Wilming, L. G., Elliott, J. F., Jong, P. J. d., Sawcer, S., Todd, J. A., Trowsdale, J., & Beck, S. Genome Research, 14(6):1176--1187, June, 2004. ![Complete MHC Haplotype Sequencing for Common Disease Gene Mapping [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex The future systematic mapping of variants that confer susceptibility to common diseases requires the construction of a fully informative polymorphism map. Ideally, every base pair of the genome would be sequenced in many individuals. Here, we report 4.75 Mb of contiguous sequence for each of two common haplotypes of the major histocompatibility complex (MHC), to which susceptibility to \textgreater100 diseases has been mapped. The autoimmune disease-associated-haplotypes HLA-A3-B7-Cw7-DR15 and HLA-A1-B8-Cw7-DR3 were sequenced in their entirety through a bacterial artificial chromosome (BAC) cloning strategy using the consanguineous cell lines PGF and COX, respectively. The two sequences were annotated to encompass all described splice variants of expressed genes. We defined the complete variation content of the two haplotypes, revealing \textgreater18,000 variations between them. Average SNP densities ranged from less than one SNP per kilobase to \textgreater60. Acquisition of complete and accurate sequence data over polymorphic regions such as the MHC from large-insert cloned DNA provides a definitive resource for the construction of informative genetic maps, and avoids the limitation of chromosome regions that are refractory to PCR amplification.
@article{stewart_complete_2004,
title = {Complete {MHC} {Haplotype} {Sequencing} for {Common} {Disease} {Gene} {Mapping}},
volume = {14},
issn = {1088-9051, 1549-5469},
url = {http://genome.cshlp.org/content/14/6/1176},
doi = {10.1101/gr.2188104},
abstract = {The future systematic mapping of variants that confer susceptibility to common diseases requires the construction of a fully informative polymorphism map. Ideally, every base pair of the genome would be sequenced in many individuals. Here, we report 4.75 Mb of contiguous sequence for each of two common haplotypes of the major histocompatibility complex (MHC), to which susceptibility to {\textgreater}100 diseases has been mapped. The autoimmune disease-associated-haplotypes HLA-A3-B7-Cw7-DR15 and HLA-A1-B8-Cw7-DR3 were sequenced in their entirety through a bacterial artificial chromosome (BAC) cloning strategy using the consanguineous cell lines PGF and COX, respectively. The two sequences were annotated to encompass all described splice variants of expressed genes. We defined the complete variation content of the two haplotypes, revealing {\textgreater}18,000 variations between them. Average SNP densities ranged from less than one SNP per kilobase to {\textgreater}60. Acquisition of complete and accurate sequence data over polymorphic regions such as the MHC from large-insert cloned DNA provides a definitive resource for the construction of informative genetic maps, and avoids the limitation of chromosome regions that are refractory to PCR amplification.},
language = {en},
number = {6},
urldate = {2015-05-20TZ},
journal = {Genome Research},
author = {Stewart, C. Andrew and Horton, Roger and Allcock, Richard J. N. and Ashurst, Jennifer L. and Atrazhev, Alexey M. and Coggill, Penny and Dunham, Ian and Forbes, Simon and Halls, Karen and Howson, Joanna M. M. and Humphray, Sean J. and Hunt, Sarah and Mungall, Andrew J. and Osoegawa, Kazutoyo and Palmer, Sophie and Roberts, Anne N. and Rogers, Jane and Sims, Sarah and Wang, Yu and Wilming, Laurens G. and Elliott, John F. and Jong, Pieter J. de and Sawcer, Stephen and Todd, John A. and Trowsdale, John and Beck, Stephan},
month = jun,
year = {2004},
pmid = {15140828},
pages = {1176--1187}
}
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A.","Trowsdale, J.","Beck, S."],"year":2004,"bibtype":"article","biburl":"http://bibbase.org/zotero/ajavadi","bibdata":{"bibtype":"article","type":"article","title":"Complete MHC Haplotype Sequencing for Common Disease Gene Mapping","volume":"14","issn":"1088-9051, 1549-5469","url":"http://genome.cshlp.org/content/14/6/1176","doi":"10.1101/gr.2188104","abstract":"The future systematic mapping of variants that confer susceptibility to common diseases requires the construction of a fully informative polymorphism map. Ideally, every base pair of the genome would be sequenced in many individuals. Here, we report 4.75 Mb of contiguous sequence for each of two common haplotypes of the major histocompatibility complex (MHC), to which susceptibility to \\textgreater100 diseases has been mapped. 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