小家系资料连锁分析参数方法及应用

©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.(2007)03-0247-04,3(,030001;3):,,:;;:Q755:AThelinkageanalysisofthesmallpedigreedataZHAOChun2ni,WANGTong(DeptofHealthStatistics,ShanxiMedicalUniversity,Taiyuan030001,China)Abstract:ObjectiveTofindthelociofhumangeneticdiseasesforthesmallpedigreedatathroughlinkageanalysis.MethodsTheparameterlinkageanalysisofthesmallpedigreedatawasused.ResultsThemultipointlinkageanalysiscouldmoreaccuratelylocalizethediseasegenethanthetwo-pointlinkageanalysis.ConclusionsItsuittothesmallpedigreedata.Multipointlinkageanalysiscannotonlycalculatetherecombinationandmapdistance,butalsolocalizethediseasegenetoonesideofthemarker.Keywords:chromosomemapping;linkageanalysis;hiddenMarkovformulation,,,(Lods),(affect2edsib2pair,ASP),,Lods[1],,1,()()LODS,(logoddsscore,LODS)LOD,,Lods[Z(^)]:Z(^)=log10L(^)L(=0.5)^:=015,:0.5,(=0-0.5),,,lgLods^Z()1,Z()3,Z()-2,-2Z()1,Z1Z-24.6Zmax12Z()=34163=13.82,P010002(0.0001)0.10,0.20,0.100.20[2],[3]Lods(),Lods(Z:(2004-13)742(JShanxiMedUniv)20073,38(3)©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.),2,,,()(),,,,,[3]2.12.1.1,A1A2B1B2,A1B1A2B2A1B2A2B1,A1B1/A2B2,A1B2/A2B1,,A1B1/A2B2,A2B2/A1B1,A1B2/A2B1,A2B1/A1B2,(),,,,A1A2B1B2,A1B1/A2B2,A2B2/A1B1,A1B2/A2B1,A2B1/A1B2,2.1.2,,,,,,,,:P(x|g)=P(xi|gi)xi,gii,P(xi|gi),,D,d,D/D,D/d,d/D,d/d(1,1,1,0),x:P(x)=P(x|g)P(g)2.2,,A1B1/A2B2A2B2/A2B2,A1B1/A2B2,A2B2/A2B2,A1B2/A2B2,A2B1/A2B2,(1-)/2,(1-)/2,/2,/2,,,(),2.3,m1,m2,m1m21,(m1m2)2-1,:,m1m2-1,m1+m2-2,,n,842(JShanxiMedUniv)20073,38(3)©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.(g)=P(g1)P(g2/g1)P(g3/g1g2)P(gn/g1g2gn-1=P(g1)P(gf)P(gf+1,fgf+1,m)P(gn/gn,fgn,m),gj,f,gj,mj,,,(),,2.4n,,n,f(f),n-f(n-f)n,f,n-f,xii,:L=G1Gnn1pen(xigi)f1pop(gi)nf+1tran(gi|gi,f,fi,m),pen(x),pop(g),tran(g)[4],m1,m2,(m1m2)2,(m1m2)2nnn,(m1m2)2n(2n-1)(m1m2)2n-1m1m2n,,2,H=4,H(H+1)/2=10,9,109(20-1)1010-1,3Lander2GreenLander2Green,fm,f,m01fm,01:0,1n,f,n-f,n-f2(n-f)2(n-f),0,122(n-f),,P(x/g)P(g/v):P(x/v)=P(x/g)P(g/v)(G),,22(n-f),[22(n-f)][22(n-f)],Q:P(x)1TQ1,k,:P(x1,x2,,xk)=P(x1)P(x2/x1)P(x3/x1,x2),P(xk|x1,x2,xk-1)x1,x2,,xkk,,,,kkI,I+1vi+1ji(1-i)2(n-f)-j,iIi+1,jvivi+1[22(n-f)]2,[22(n-f)][22(n-f)],Ti:P(x1,x2,,xk)=P(x1)P(x2|x1)P(x3|x1,x2)P(xk|x1,x2,,xk-1)P(x1)P(x2|x1)P(x3|x2)P(xk|xk-1)942(JShanxiMedUniv)20073,38(3)©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.=1TQ1T1Q2T2Tk-1Qk1[3]Lander-Green,2(n-f),(20),4[5](BPES)3q4D3S3045D3S1764D3S3053D3S24364D3S3045(3cen-q21)D3S1764(3q22-24)30.4cM(),D3S1764(3q22-24)D3S3053(3q)30.3cM,D3S3053(3q)D3S2436(3q)24.3cM10-5,(H-D,0.9995)100%,D3S3045,D3S1764,D3S3053D3S24368,7,54,Linkage(Version5.2)MLINKLods,BPESD3S3045,D3S3053D3S2436Lods1,D3S1764=0.00,Lod3.61,Mendel5.0LocationScore,BPESD3S3045,D3S3053D3S2436Lods1,,D3S1764=0.0001,Lod2.7073,Mendel5.0MappingMarker,D3S3045,D3S1764,BPES,D3S3053,D3S2436Lods4.260BPESD3S1764D3S3053,D3S17640.0001,0.01cM,D3S30530.1377,19.840cM1,1BPES4Tab1Multipointlinkageanalysisofdiseaselociandfourmi2crosallitemarkers(Loci)(cM)D3S3045D3S17640.4440030.40BPES0.000100.01D3S30530.1637719.84D3S24360.3919624.305,,,,,,(),,,,,[3]:[1].[J].:,1998,21(2):60-65.[2],.[M].:,1998:182-184.[3]ShamP.Statisticsinhumangenetics[M].NewYork:JohnWi2ley&SonsInc.,1998:68,101-103,115-118.[4]ZhaoLP,QuiaoitF,AragakiC,etal.Anefficient,robust,andunifiedmethodformappingcomplextraits():multipointlink2ageanalysis[J].AmJMedGenet,1998,79(1):48-61.[5],,.[J].,2001,18(1):8-10.:,,1978-07,,.[:2006-11-13]052(JShanxiMedUniv)20073,38(3)