アレイCGHのすべて - cytogen.jp

1 13b13b13b13b CGHCGHCGHCGH 1 CGHCGHCGHCGH CGHCGHCGHCGH CGHCGHCGHCGH DNADNADNADNA DNADNADNADNA humanhumanhumanhuman Cot-1 Cot-1 Cot-1 Cot-1 DNADNADNADNA DNADNADNADNA DNADNADNADNA LogLogLogLog2222 0000 Log2 Log2 Log2 Log2 Log2 Log2 Log2 Log2

2 Physicalphysicalphysicalphysical positionpositionpositionposition Log2 Log2 Log2 Log2 CGHCGHCGHCGH arrayarrayarrayarray comparativecomparativecomparativecompara tive genomicgenomicgenomicgenomichybridizatio n;hybridization;hybridization;hybridizat ion; array-CGH;array-CGH;array-CGH;array-CGH; aCGHaCGHaCGHaCGH CGHCGHCGHCGH arrayarrayarrayarray DNADNADNADNA microarraymicroarraymicroarraymicroarray CGHCGHCGHCGH DNDNDNDNAAAA

3 CGHCGHCGHCGH 2222 MbMbMbMb 10101010 MbMbMbMb DNADNADNADNA DNADNADNADNA BAC,BAC,BAC,BAC, PACPACPACPAC CGHCGHCGHCGH.

4 CGHCGHCGHCGH CGHCGHCGHCGH 8888 ~17%~17%~17%~17% (Gekas(Gekas(Gekas(Gekas etetetet al.,al.,al.,al.,2011)2011)2011)2011) 13b13b13b13b CGHCGHCGHCGH 2 (Miller(Miller(Miller(Miller etetetet al.,al.,al.,al., 2010)2010)2010)2010) [13a.]

5 [13a.[13a.[13a. ]]]] CGHCGHCGHCGH CGCGCGCGHHHH DNADNADNADNA targettargettargettarget DNDNDNDNAAAA DNDNDNDNAAAA

6 SNSNSNSNPPPP AA/AB/BBAA/AB/BBAA/AB/BBAA/AB/BB losslosslossloss ofofofofheterozygosityheterozygosityhete rozygosityheterozygosity (LOH)(LOH)(LOH)(LOH) FISFISFISFISHHHH CGCGCGCGHHHH DNADNADNADNA DNADNADNADNA 2222 DNADNADNADNA twotwotwotwo colorcolorcolorcolor microarraymicroarraymicroarraymicroarray

7 DNADNADNADNA oneoneoneone colorcolorcolorcolormicroarraymicroarray microarraymicroarray 2003200320032003 CGHCGHCGHCGH ((((3333 )))) 2003200320032003 2009200920092009 BACBACBACBAC 2007200720072007 oligooligooligooligo SNPSNPSNPSNP BACBACBACBAC 1111 ~ ~ ~ ~ MbMbMbMb OligoOligoOligoOligo SNPSNPSNPSNP [13a[13a[13a[13a ]]]]

8 SNPSNPSNPSNP ChIPChIPChIPChIP chromatinchromatinchromatinchromatinimmu noprecipitationimmunoprecipitationimmuno precipitationimmunoprecipitation MLPAMLPAMLPAMLPA PCRPCRPCRPCR CGCGCGCGHHHH MLPAMLPAMLPAMLPA MultiplexMultiplexMultiplexMultiplex Ligation-dependentLigation-dependentLiga tion-dependentLigation-dependent ProbeProbeProbeProbeAmplificationAmplifi cationAmplificationAmplification PCRPCRPCRPCR [13d[13d[13d[13d MLPA]MLPA]MLPA]MLPA] GekasGekasGekasGekas J,J,J,J, VallVallVallVall eeee M,M,M,M, CastonguayCastonguayCastonguayCastonguay L,L,L,L, LaframboiseLaframboiseLaframboiseLaframb oise R,R,R,R,MarandaMarandaMarandaMaranda B,B,B,B, PiedboeufPiedboeufPiedboeufPiedboeuf B,B,B,B, RousseauRousseauRousseauRousseau F:F:F:F.

9 ClinicalClinicalClinicalClinicalvalidity validityvalidityvalidity ofofofof karyotypingkaryotypingkaryotypingkaryoty ping forforforfor thethethethe diagnosisdiagnosisdiagnosisdiagnosis ofofofofchromosomalchromosomalchromosoma lchromosomal imbalanceimbalanceimbalanceimbalance followingfollowingfollowingfollowing arrayarrayarrayarraycomparativecomparati vecomparativecomparative genomicgenomicgenomicgenomic JJJJ MedMedMedMed GenetGenetGenetGenet48:85148:85148:85148 :851 855,855,855,855, S,S,S,S, ImotoImotoImotoImoto I,I,I,I, AizuAizuAizuAizu YYYY etetetet al.:al.:al.:al.: ClinicalClinicalClinicalClinicalapplicat ionapplicationapplicationapplication ofofofof array-basedarray-basedarray-basedarray-b ased comparativecomparativecomparativecompara tive genomicgenomicgenomicgenomichybridizatio nhybridizationhybridizationhybridization bybybyby two-stagetwo-stagetwo-stagetwo-stage screeningscreeningscreeningscreening forforforfor 536536536536patientspatientspatientspati ents withwithwithwith mentalmentalmentalmental retardationretardationretardationretarda tion andandandand multiplemultiplemultiplemultiplecongenit alcongenitalcongenitalcongenital JJJJ HumHumHumHum GenetGenetGenetGenet 56:11056:11056:11056:110 124,124,124,124, DT,DT,DT,DT, AdamAdamAdamAdam MP,MP,MP,MP, AradhyaAradhyaAradhyaAradhya S,S,S,S, etetetet al.

10 :al.:al.:al.: ConsensusConsensusConsensusConsensusstat ement:statement:statement:statement: ChromosomalChromosomalChromosomalChromos omal microarraymicroarraymicroarraymicroarray isisisis aaaafirst-tierfirst-tierfirst-tierfirst- tier clinicalclinicalclinicalclinical diagnosticdiagnosticdiagnosticdiagnostic testtesttesttest forforforforindividualsindividualsindivi dualsindividuals withwithwithwith developmentaldevelopmentaldevelopmentald evelopmental disabilitiesdisabilitiesdisabilitiesdisa bilities ororororcongenitalcongenitalcongenitalco ngenital AmAmAmAm JJJJ HumHumHumHum GenetGenetGenetGenet 86:74986:74986:74986:749 764,764,764,764, NNNN,,,, ShimokawaShimokawaShimokawaShimokawa O,O,O,O, HaradaHaradaHaradaHarada N,N,N,N, etetetet al.:al.:al.:al.: BACBACBACBAC arrayarrayarrayarrayCGHCGHCGHCGH revealsrevealsrevealsreveals genomicgenomicgenomicgenomic aberrationsaberrationsaberrationsaberrat ions inininin idiopathicidiopathicidiopathicidiopathic mentalmentalmentalmental AmAmAmAm JJJJ MedMedMedMed GenetGenetGenetGenet A140:205A140:205A140:205A140:205 211,211,211,211, T,T,T,T, MontpetitMontpetitMontpetitMontpetit A,A,A,A, ChaiChaiChaiChai D,D,D,D, etetetet al.