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Article: The effect of marker characteristics on the power to detect linkage disequilibrium due to single or multiple ancestral mutations

TitleThe effect of marker characteristics on the power to detect linkage disequilibrium due to single or multiple ancestral mutations
Authors
Issue Date2000
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
Citation
Annals Of Human Genetics, 2000, v. 64 n. 2, p. 161-169 How to Cite?
AbstractAn important design issue in allelic association studies for mapping disease genes is the choice of markers. We have used a simple model of a founder population, similar to those of Ott and Rabinowitz and Chapman and Wijsman, to explore the effect of the number of alleles at a marker polymorphism on the power to detect linkage disequilibrium due to single or multiple ancestral disease mutations. We show that the optimal number of alleles is more than 2 even in the case of a single ancestral disease mutation, and much higher still if multiple ancestral mutations are present. In large samples, much power is lost by using too few alleles, but relatively little power is lost by using too many alleles. These results confirm the desirability of using highly polymorphic markers or multi-locus haplotypes for association analysis. They also show that multiple ancestral disease mutations do not necessarily preclude linkage disequilibrium mapping, if highly polymorphic markers or multi-locus haplotypes are used.
Persistent Identifierhttp://hdl.handle.net/10722/175815
ISSN
2015 Impact Factor: 1.889
2015 SCImago Journal Rankings: 1.191
References

 

DC FieldValueLanguage
dc.contributor.authorSham, PCen_US
dc.contributor.authorZhao, JHen_US
dc.contributor.authorCurtis, Den_US
dc.date.accessioned2012-11-26T09:01:31Z-
dc.date.available2012-11-26T09:01:31Z-
dc.date.issued2000en_US
dc.identifier.citationAnnals Of Human Genetics, 2000, v. 64 n. 2, p. 161-169en_US
dc.identifier.issn0003-4800en_US
dc.identifier.urihttp://hdl.handle.net/10722/175815-
dc.description.abstractAn important design issue in allelic association studies for mapping disease genes is the choice of markers. We have used a simple model of a founder population, similar to those of Ott and Rabinowitz and Chapman and Wijsman, to explore the effect of the number of alleles at a marker polymorphism on the power to detect linkage disequilibrium due to single or multiple ancestral disease mutations. We show that the optimal number of alleles is more than 2 even in the case of a single ancestral disease mutation, and much higher still if multiple ancestral mutations are present. In large samples, much power is lost by using too few alleles, but relatively little power is lost by using too many alleles. These results confirm the desirability of using highly polymorphic markers or multi-locus haplotypes for association analysis. They also show that multiple ancestral disease mutations do not necessarily preclude linkage disequilibrium mapping, if highly polymorphic markers or multi-locus haplotypes are used.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHGen_US
dc.relation.ispartofAnnals of Human Geneticsen_US
dc.subject.meshChi-Square Distributionen_US
dc.subject.meshFounder Effecten_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMutationen_US
dc.titleThe effect of marker characteristics on the power to detect linkage disequilibrium due to single or multiple ancestral mutationsen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1017/S0003480000008046en_US
dc.identifier.pmid11246469-
dc.identifier.scopuseid_2-s2.0-0033915978en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033915978&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume64en_US
dc.identifier.issue2en_US
dc.identifier.spage161en_US
dc.identifier.epage169en_US
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridZhao, JH=7410311266en_US
dc.identifier.scopusauthoridCurtis, D=14633020700en_US

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