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Hum Mol Genet DOI:10.1093/hmg/ddh202

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.

Publication TypeJournal Article
Year of Publication2004
AuthorsSawcer, SJ, Maranian, M, Singlehurst, S, Yeo, TW, Compston, A, Daly, MJ, De Jager, PL, Gabriel, S, Hafler, DA, Ivinson, AJ, Lander, ES, Rioux, JD, Walsh, E, Gregory, SG, Schmidt, S, Pericak-Vance, MA, Barcellos, L, Hauser, SL, Oksenberg, JR, Kenealy, SJ, Haines, JL
JournalHum Mol Genet
Date Published2004 Sep 01
KeywordsChromosome Mapping, Evaluation Studies as Topic, Genetic Markers, Genotype, Humans, Microsatellite Repeats, Multiple Sclerosis, Polymorphism, Single Nucleotide, United Kingdom

To explore the potential value of recently developed high-density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear families first studied in the 1996 UK multiple sclerosis linkage genome screen, using Applied Biosystems high-density microsatellite linkage mapping set, the Illumina BeadArray linkage mapping panel (version 3) and the Affymetrix GeneChip Human Mapping 10K array. We found that genotyping success, information extraction and genotyping accuracy were improved with all systems. These improvements were particularly marked with the SNP-based methods (Illumina and Affymetrix), with little difference between these. The extent of additional information extracted is considerable, indicating that reanalysis of existing multiplex families using these newer systems would substantially increase power.


Alternate JournalHum. Mol. Genet.
PubMed ID15238506