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1 呂

2 GENE

3 DNA RNA

6 類 Human Genome Project, HGP 1985 年 (DOE) 1987 年 1988 年 9 (NIH) 立 1988 年 Celera 2001 年 2 類類 DNA 30 識類 DNA 30,000

7 類 ~30,000 3 x 10 9 x 0.34 x 10-9 m = 1 m

10 Chromosomes 了不來 " " ("autosomes") 女女不女兩 "X" "X" "Y" X Y " " ("sex chromosomes")

15 錄 DNA RNA

16 RNA RNA

17 RNA

23 來

29 G C

31 A

36 異不

37 1. 見 DNA 2. : 類 3. 理 UV UV γ rays, X rays 4. B EB

38 精卵裂裂 3 billion 復

42 異

48 DNA repair system (DNA )

52 類聯

53 異狀率 50%

56 不神 Huntington

57 狀易罹見數異兩率便

59 尿 PKU 尿 (homocystinuria) 糖不

60 尿率酪路量力 73 年料都狀女罹 1/4 女異

61 若不療力狀 3~4 狀療 1 療 95 1~2 療 85 療療 53-45

62 便不女更年尿 (maternal PKU)

63 (hemoglobin) (globin chain) 量降 ( microcytosis) 不易裂

64 尿 (homocystinuria) 率率更硫路 cystathionine- -synthase( CBS) homocysteine 不療不略更塞

65 聯

66 X 聯女罹 X 聯女 2 X 聯罹 X 聯女都 X 不 Y

67 6- 糖糖六 (G-6-PDH deficiency) 130 X % 0.1% 度 2.6% 更見例率女

68 G-6-PDH X 女若不 X X 不易狀 X 異 X

69 糖六 (G-6-PDH) 糖行 NADPH 若易易度例

71 X 女兩 X 若狀狀臨都女 50% 女,

72 類兩類臨狀不臨 threshold effect 異數臨異臨異數臨度異數

73 糖尿 (Diabetes mellitus) (Essential hypertension) ( 狀狀 Coronary artheriosclerotic heart disease) (Hyperlipidemia) (Congenital heart defects) 精神裂 (Schizophrenia)

74 LDL- 數 LDL- 力降 600 LDL 度

77 兩類

78 臨見率類 LDL 不度 >600 mg/dl 年數狀都累塞

79 率 1/500 類 LDL 數數度 300~400 mg/dl 狀女 10 年

80 WT ob/ob

81 Gene Therapy Simple in Theory but Difficult in Practice

82 類 Human Genome Project, HGP 1985 年 (DOE) 1987 年 1988 年 9 (NIH) 立 1988 年 Celera 2001 年 2 類類 DNA 30 識類 DNA 30,000

84 類 Human genome project 不異了 post- genome era 了

86 Single Nucleotide Polymorphisms(SNPs) Patient 1 A C T G A C T G Patient 2 A C T G C C T G Patient 3 A C T G A C T G Patient 4 A C T G A C T G

87 率 1% 類異 90% SNPs SNP 類 SNPs 30~100 SNPs 異

88 J.M. M.J.

89 Why are SNPs important? common variants 見異 common diseases 見糖尿

90 SNP 1. 2 不良 3. 度

91 ( Gefitinib (Iressa) (EGFR) 異 (Carbamazepine) ( 類 HLA-B*1502) 烈連降尿 (allopurinol) HLA-B*5801 連 warfarin 量 CYP2C9 VKORC1 連

92 來降臨不良療不量療

93 Potential of Pharmacogenetics All patients with same diagnosis 1 Non-responders and toxic responders 2 Treat with alternative drug or dose Responders and patients not predisposed to toxicity Treat with conventional drug or dose

94 療

95 Agriculture\Animal Genome Scan Research References SNP sets associated with agriculture traits Cattle production panels

96 Single Base Primer Extension Hybridize Extend Detect ddntp

97 GenomeLab TM SNPstream Genotyping System

98 Gene Gene Chip Chip Relative Relative size size of of Gene Gene Chip Chip Pictures Pictures modified modified from from GeneDetect.com GeneDetect.com

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102 1. 類 2.DNA 異 3. DNA 異見 4. 勵 5. 類

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105 粒 DNA 粒粒 2~10 粒 DNA 粒 DNA 說不粒粒見列 300~400 粒率 1/10,000 ( 粒 ) DNA 卵數粒精卵精粒留卵精卵粒 DNA 來

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107 1871 年 Rhine River 精 DNA 1943 年 Avery, McCarty MacLeod DNA 力 1953 年 Watson Click DNA 螺 (double helix) 年 Meselson Stahl 說 DNA 離 1958 年 Kornberg 離 DNA 1965 年 (plasmids) (antibiotic resistance) 1966 年 Khorana, Nicrenberg 立 (genetic code) 1960 年 DNA DNA DNA 1972 年 Paul Berg 兩 DNA

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118 Gene Gene Chip Chip Relative Relative size size of of Gene Gene Chip Chip Pictures Pictures modified modified from from GeneDetect.com GeneDetect.com

119 Spot your own Chip (plans available for free from Pat Brown s website) Robot spotter Ordinary glass microscope slide QuickTime?and a TIFF (Uncompressed) decompressor are needed to see this picture.

120 Manufacture of Chips: Photolithography

121 Expression Arrays

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126 Cluster by color difference

127 : DMD/BMD 3. CAH 4. ACH 不 5. PCKD 6. Hemophilia 7. har 女 8. Huntington 9.Y 落 10.Pompe Disease / 11.ABO 12.NF1 神 Connexin 26 聾 15. 粒 DNA A1555G 聾

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