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Statistical power for detecting epistasis QTL effects under the F-2 design 英文参考文献
Genet.Sel.Evol.37(2005)129–150
c INRA,EDPSciences,2005
DOI:10.1051/gse:2004041
129
Originalarticle
StatisticalpowerfordetectingepistasisQTL
e?ectsundertheF-2design
YongcaiMao,YangDa?
DepartmentofAnimalScience,UniversityofMinnesota,SaintPaul,MN55108,USA
(Received16April2004;accepted9September2004)
Abstract–Epistasisreferstogeneinteractione?ectinvolvingtwoormoregenes.Statistical
methodsformappingquantitativetraitloci(QTL)withepistasise?ectshavebecomeavailable
recently.However,littleisknownaboutthestatisticalpowerandsamplesizerequirementsfor
mappingepistaticQTLusinggeneticmarkers.Inthisstudy,wedevelopedanalyticalformulaeto
calculatethestatisticalpowerandsamplerequirementfordetectingeachepistasise?ectunder
theF-2designbasedoncrossinginbredlines.AssumingtwounlinkedinteractiveQTLandthe
sameabsolutevalueforallepistasise?ects,theheritabilityofadditive×additive(a×a)e?ectis
twiceaslargeasthatofadditive×dominance(a×d)ordominance×additive(d×a)e?ect,and
isfourtimesaslargeasthatofdominance×dominance(d×d)e?ect.Consequently,amongthe
fourtypesofepistasise?ectsinvolvingtwoloci,‘a×a’e?ectistheeasiesttodetectwhereas
‘d×d’e?ectisthemostdi?culttodetect.Thestatisticalpowerfordetecting‘a×a’e?ectis
similartothatfordetectingdominancee?ectofasingleQTL.Thesamplesizerequirements
fordetecting‘a×d’,‘d×a’and‘d×d’arehighlysensitivetoincreaseddistancebetween
the markers and theinteracting QTLs.Therefore, using dense marker coverage iscritical to
detectingthosee?ects.
epistasis/QTL/statisticalpower/samplesize/F-2
1. INTRODUCTION
Epistasis refers to gene interaction e?ect involving two or more genes.
Evidence fromstudies inseveralspecies, including cattle[18,21],dogs[1],
rat[23],drosophila[8]andhumans[10,20],indicatesthatepistasiscanplaya
signi?cantroleinbothquantitativeandqualitativecharacters.Epistasise?ects
of quantitative trait loci (QTL)have been found insoybean [17], maize [9]
andtomato[11].Amongthemanymodelstostudyepistasise?ects,thelinear
partitionofgenotypicvaluesintoadditive,dominance,and
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