染色体から染色体マイクロアレイへ - cytogen.jp

1 13a 13a 13a 13a 1 q12q12q12q12 Mb GGGG---- 21212121 13131313 TurnerTurnerTurnerTurner KlinefelterKlinefelterKlinefelterKlinefe lter GGGG---- FISHFISHFISHFISH 2010201020102010 American American American American Journal of Human GeneticsJournal of Human GeneticsJournal of Human GeneticsJournal of Human Genetics 36363636 Miller et al.

2 , 2010 Miller et al., 2010 Miller et al., 2010 Miller et al., 2010 autism autism autism autism spectrum disordersspectrum disordersspectrum disordersspectrum disorders ASDASDASDASD AspergerAspergerAspergerAsperger GGGG---- FISHFISHFISHFISH chromosomal microarraychromosomal microarraychromosomal microarraychromosomal microarray CMACMACMACMA

3 Miller et al. (2010) Miller et al. (2010) Miller et al. (2010) Miller et al. (2010) chromosomal mchromosomal mchromosomal mchromosomal microarrayicroarrayicroarrayicroarray microarraymicroarraymicroarraymicroarray ----based genomic copybased genomic copybased genomic copybased genomic copy----number number number number analysisanalysisanalysisanalysis BACBACBACBAC DNADNADNADNA SNPSNPSNPSNP MLPAMLPAMLPAMLPA PCRPCRPCRPCR qPCRqPCRqPCRqPCR

4 3%3%3%3% 4444 FISHFISHFISHFISH 21212121 13131313 TurnerTurnerTurnerTurner KlinefelterKlinefelterKlinefelterKlinefe lter FISHFISHFISHFISH 13a 13a 13a 13a 2 89898989 4444 9999 Gekas et al.

5 , 2011 Gekas et al., 2011 Gekas et al., 2011 Gekas et al., 2011 CGHCGHCGHCGH microarray comparative genomic microarray comparative genomic microarray comparative genomic microarray comparative genomic hybridizationhybridizationhybridizationh ybridization [13b [13b [13b [13b CGHCGHCGHCGH ]]]] DNADNADNADNA DNADNADNADNA DNADNADNADNA DNADNADNADNA SNPSNPSNPSNP [13c [13c [13c [13c PCRPCRPCRPCR SNPSNPSNPSNP ] ] ] ] MLPAMLPAMLPAMLPA [1 [1 [1 [13d MLPA] 3d MLPA] 3d MLPA] 3d MLPA]

6 Copy number variationcopy number variationcopy number variationcopy number variation pathogenicpathogenicpathogenicpathogenic benignbenignbenignbenign Gardner et al. Gardner et al. Gardner et al. Gardner et al. 4444 (2011) (2011) (2011) (2011) copy number change (CNC)copy number change (CNC)copy number change (CNC)copy number change (CNC) copcopcopcopy number alteration (y number alteration (y number alteration (y number alteration (CCCCNA)NA)NA)NA) copy number variation (CNV)copy number variation (CNV)copy number variation (CNV)copy number variation (CNV)

7 Copy number variationCopy number variationCopy number variationCopy number variation GardnerGardnerGardnerGardner de de de de novonovonovonovo 1 Mb1 Mb1 Mb1 Mb >99%>99%>99%>99% 500 kb500 kb500 kb500 kb = Mb= Mb= Mb= Mb de novode novode novode novo 1 Mb1 Mb1 Mb1 Mb DNADNADNADNA

8 Targetedtargetedtargetedtargeted 13a 13a 13a 13a 3 Miller et al.

9 (2010) Miller et al. (2010) Miller et al. (2010) Miller et al. (2010) whole genomewhole genomewhole genomewhole genome American College of Medical Genetics American College of Medical Genetics American College of Medical Genetics American College of Medical Genetics (Kearney et al., 2011) (Kearney et al., 2011) (Kearney et al., 2011) (Kearney et al., 2011) 400 400 400 400 kb (= Mbkb (= Mbkb (= Mbkb (= Mb) ) ) ) 5 Mb5 Mb5 Mb5 Mb 1/101/101/101/10 1111 GGGG---- FISHFISHFISHFISH 3333

10 15151515 6666 15151515