Vol. 32, Special Issue, S 51 S 64 (2011) e-mail:mmatsuura@jfcr.or.jp 1. Web Site 1 gene chromosome Arthur, 2002;, 2002;, 2004; Web Site 2 Knudesen, 2002;, 2005, 2000a, 2004;, 2004, 2004, 2005a,b; Ushijima et al., 2006
S52 omics 2. DNA Watson and Crick (1953) DNA 2 DNA A T G C 4 30 30 0.1 0.5 % RNA mrna 1958 3 1 20 20 Brown, 1999 1960 Dayhoff 1983 Doolittle et al. (1983) v-sis Doolittle 1990 30 2003 4 99.99 % 6 22000 International Human Genome Sequencing Consortium, 2004 NCBI UCSC
S53 2.1 Mount, 2001;, 2006a DNA 1 A B A B FASTA 1990 BLAST Basic Local Alignment Search Tool Altschul et al., 1990 2 2 1 1 1 Hidden Markov Model HMM Durbin et al., 1998 HMM 3 3 HMM
S54 BLAST E-value 2 E-value, 2002 Setubal and Meidanis, 1997 3. omics genomics mrna transcriptomics proteomics -omics omics mrna, 2005 1 SNP: single nucleotide polymorphism, 2000; Rebbeck, 2004 2 mrna Kohane et al., 2003;, 2007 3, 2004; Ushijima et al., 2007 SNP 1000 SNP SNP SNP SNP SNP SNP 30 DNA SNP Web Site 3 HapMap 2005
S55 Phase I The International HapMap Consortium, 2005 44 4 269 100 SNP Web Site 4 4. SNP SNP 2 SNP SNP SNP JSNP, Web Site 5 SNP 10 SNP SNP SNP 100 SNP SNP association study, case-control study 2 SNP 3 2 3 2 G A SNP GG, GA AA 3 1 SNP 2 SNP 2 1 2 3 SNP 3
S56 2 3 GG AA GA SNP SNP 2 3 2 2 2 2 2 2 HW HW Falconer and Mackay, 1996 SNP G A p q HW GG, GA, AA p 2,2pq, q 2 HW 2 HW SNP, 2001 SNP SNP 4.1 SNP SNP SNP 1 SNP Daly et al., 2001 SNP 1 2 1 k SNP 2 k 90 % 2 6 Stram et al., 2003 3 3 SNP3 3 T 1 2 SNP3 C 1 1 SNP3 SNP1 G 3
S57 1. SNP 2 G SNP2 3 A 1 A SNP1 SNP2 1 1 SNP1 SNP2 SNP3 SNP1, SNP2 SNP3 G, A, T 3 2 SNP 2 1 1 SNP 3 2 4.2 3 SNP 2 SNP 2 SNP 2 SNP 2 SNP SNP SNP 2 SNP
S58, 2001 2 SNP SNP Anderson and Novembre, 2003 Gabriel et al. (2002) SNP SNP 2 SNP Fujisawa et al. (2007) 2 2 SNP SNP SNP p 1 2 SNP SNP 2 SNP SNP 4.3 SNP 2 SNPAlyze
S59 Ohmori et al., 2003 Haplotyper Niu et al., 2002 Stram et al. (2003) CYP17 2 1 1 SNP Tzeng 2005 1, 2006b Tzeng 2 1 2 p 71 2 SNP p 0.015 0.054 3 59 %, 24 %, 17 % 17 % 0.9 3 0.0018 2 0.00062 4.4 2 k y =1 y =0 2 y =0,1 y =1 P (y =1)=1/{ 1+exp( b 0 b 1x 1 b 2x 2 b k x k ) } b i 0 i k i x i i i 1 0 i j x i =1, x j =1 i x i =2 x 0 i
S60 exp(b i) 2 SNP SNP SNP m (m 1) SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP 5. 500 3000 SNP Web Site 6 100 SNP, 2001 Common disease common variant CDCV rare variant SNP p, 2006 p p
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