PowerPoint TCATCTGTGGGAAGGGAGTCCCTGGCTAATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTGATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTAATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTGATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC
TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTCATACTGCCCCCACCACAGCTCC TCATCTGTGGGAAGGGAGTCCCTGGCTTATACTGCCCCCACCACAGCTCC
di ffe
re nt
a lle
le s
But the diallelic type is the most common SNP (e.g. T->C)
SNPs are an abundant form of common genome variation, distinguished from rare variations by a requirement for the least abundant allele to have a frequency of 1% or more.

~ 25,000 non-synonymous cSNPs
~ 50,000 synonymous cSNPs
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IntroductionIntroduction San Huang San Huang XieXie XinXin Tang ( Tang ( ))
Traditional Chinese MedicineTraditional Chinese Medicine Rheum Rheum (() )
PolygonaceaePolygonaceae ( ( ))
ScutellariaScutellaria (())
Neuroscience Letters, 2001, 309(1), 67-71 Toxicology, 1999, 135(2-3), 109-115 FEBS Letters, 2001, 500(1-2), 52-55 Fitoterapia, 2001, 72(3), 221-229 Immunopharmacology, 2000, 49(3), 295-306 Planta Medica, 2000, 66(8), 694-698 Antiviral Research, 1995, 26(1), 11-25 Antiviral Research, 1992, 19(3), 207-217
CoptisCoptis (())
Clinical and Experimental Pharmacology and Physiology, 2004, 31(1/2), 65-69 Journal of Pharmacological Sciences, 2004, 94(1), 60-66 Plant Derived Antimycotics, 2003, 525-549 British Journal of Cancer, 1999, 81(3), 416-422 Chinese Pharmaceutical Journal (Taipei), 1998, 50(4), 233-247 Life Sciences, 1997, 60(23), PL345-PL351 American Journal of Chinese Medicine, 2002, 30(4), 589-599
LPSTLR4
http://genomed.dlearn.kmu.edu.tw/LTR5-SNP.val
P349
P349
P349
http://genomed.dlearn.kmu.edu.tw/lab.htm
http://genomed.dlearn.kmu.edu.tw/lab.htm

LD (Linkage disequilibrium)
IncreasedC C
NormalC T
ReducedT T
Warfarin maintenance dose (mg)
Variant: *1*2 4.88
Variant: *1*3 3.32
GENETIC POLYMORPHISMS, MATERNAL GENETIC POLYMORPHISMS, MATERNAL SMOKING AND LOW BIRTH WEIGHT (LBW)SMOKING AND LOW BIRTH WEIGHT (LBW)
Data from: Wang X, et al. JAMA 287:195-2002, 2002.
65% of all infant deaths occur among LBW infants, while LBW infants account for 7.6% of all live births
Reduction in birth wgt among smoking women
GenotypeGenotype Weight ReductionWeight Reduction CYP1A1 AACYP1A1 AA 252 g252 g CYP1A1 CYP1A1 Aa/aaAa/aa 520 g520 g
GST1 AA/GST1 AA/AaAa 285 g285 g GST1 GST1 aaaa 642 g642 g
Genotype Analysis Using Human Hair Shaft Cancer Epidemiology, Biomarkers & Prevention 11: 925–929, 2002
Hsueh-Wei Chang, Ching-Yu Yen, Shyun-Yui Liu, Gad Singer, and Ie-Ming Shih*
SNP Genotyping
TT TC CC
1 9 17 25 33 41 2 10 18 26 34 42 3 11 19 27 35 43 4 12 20 28 36 44 5 13 21 29 37 45 6 14 22 30 38 46 7 15 23 31 39 47 8 16 24 32 40 48
APO-E 112 APO-E 158
Populations n
E2/E2 E2/E3 E3/E3 E2/E4 E3/E4 E4/E4 ε2 ε3 ε4
Taiwanese 48 2.1 14.6 68.8 0.0 12.5 2.1 9.4 82.3 8.3ns
Chinese22 141 1.4 12.1 70.9 0.0 14.9 0.7 7.4 84.4 8.2ns
European19 590 0.8 9.3 57.3 1.9 27.3 3.4 6.4 75.6 18.0*
ns = not significant; * p < 0.03
APO-E
Genotyping of C825T
Genotype (%)
C825T
SNP Genotype & Haplotype
& &
phenotype 1/Genotype no effect phenotype 2/Genotype effect phenotype 3/Genotype effect phenotype 4/Genotype ADR?
= SNP ?

GENETIC POLYMORPHISMS, MATERNAL SMOKING AND LOW BIRTH WEIGHT (LBW)
& &