Download - 第十六章 基因诊断
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DNARNADNARNA
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6 DNARNA 1 2DNA. 1DNAmRNA 2mRNA 1 2 3 3 1 2
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1 DNA RNA
FOU?
DNApg
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CML E.coli
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1. 2. 3. 4.
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DNAmRNAprotein
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CT
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reverse genetics 1.DNA2.DNADNA BANK3.DNA 4.genetic marker.5.()6.7.8.
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1./// 1 2/ 3/ 4/PCR 5 6//2.1
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1.Southern DNA2.Northern RNAmRNA 3. 4.
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(PCR PCRPCRDNA single strand conformation polymorphism,sscpDNAPCRPCRSSCP
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DNADNADNADNA DNADNA DNA
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1 2 2 3 4 5 1mRNA 2mRNA 3mRNA 1 2 3
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3 mRNA
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1.DNADNADNA 2.DNA 1 PCR/ASO 1a.b./ 2DNAPCR DNAASO
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3 / /2 SSCPPAGE DNADNASSCPPAGE
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DNACDNA // /PCR PCR
5313425313
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1RFLPPCRPCR/RFLP DNARFLPRFLPRFLP DNA10020CMRFLP
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3 a b c aRFLPRFLP bRFLP cRFLPRFLP d
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9/922/922/22kb-9/9kbkan-3BamHIRFLPabRFSP DNARFLPDNA5%1%RFLP
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2CA PCR/PAGEP146
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1mRNA12RTPCR2mRNA RTPCR/PCR3mRNA NorthernRTPCR PCR
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1.Hb . Rbc
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4.Hb Punjab Hb55.6%16P30Hb121GAAGlu) CAAGln EccRIDNAPCR 33DNA144bpEcoRI3C1PCRPCR/ASO40/104bpHbPuN Job 144bp,40/104bpDNAMnl IHbE 26 GluLys))C1C2PCRC3PCR/RFLPRNAHbmRNART/PCRRT-PCRmRNAPCRmRNAmRNA
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DMDBMD
1. DMDBMD 2. XP21.2121.3DMD5201/3500 BMDDMD1/30000 3. 1DNA60%DMDBMD25%32545~55
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4.DMDDNADMDBMDDNA
1 XP21P202cDNAcDNA3PCRPCR9DNA80%DMD4RFLPCADMD
5.DMDRNA
RTPCR2.4MBc14kb
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PKU 1 21
2phe 313/4PKU 11PAHPAH 2PAH11399GTAvalGTTvalPKU PAH
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4DNAPCR/ASOPKURFLPPCR/SSCPPKU5 399 RFLP PKU8 1PAHRFLPECORIECORI11/17kbPKURFLP 2PCR/ASODNAPCR/PAHASO399ASO DNA/ASO; ;a1PKU399ATPKU a. bPKLLECLRIRFLPc DNAASO
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1/5000~1/50000
XXqFX0,1%186kb26PCR/ASORFLP
X1%FIXFIXFIX398FIXXq26q2734kb8
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FIXcDNADNAFIX5RFLPFIX5kbDNA2~3+2+13ab
4FcDNAVIIIDNADX18St14PCR/BCLIXbaI RFLPPCR/SSCPFVIII18BCL IDNA
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1HAV7500HAVcDNACDNARNASSRNARNAHBVHBVDNA3.3kbPCRPCREBHDVHDVSSRNA1678 DNAcDNARNART/PCRELISA21EcoliEcoli;(2) 34PCR3PCR
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1.1DNA22. DNA 1 2
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JkB DNA 1 2B DNA221 2J1 21 2kB
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C-myc bc1-2 t14;18)( q32;qI1) 85% 12C-onc
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1.229CML22phCML9095%phCML9229q+22q-
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2.1.pht9;222.C-onc C-ab c-sis9223.CML DNAbcr9c-abl5100kb225.8kbbcr4.CMLc-abl/bcrmRNA5.bcr CMLbcrbcr Bcrph BcrCMLALLAML PCRbcr/ablCML
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DNA DNASou-thernDNAsouthernDNA
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1.JeffreysRFLP100bp 2.161732333F4623F6bp 3.DNAsouthernblotDNA 4.DNADNA
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11976DNAABCMD2ABCD3ANorthern blot B Western blot C dot blot D. Southern blot4PCRABCD
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5DNAABCD
6ABCD
7ADNABDNACDANDDNA
8A2050B2060C2070D2080
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9SangerA23B24C34D35
102090ABCD
11ABCD
12APCR/ASO BPCR/SSCP/sequencing C RT/PCR D RFLP
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13.- A6P13.3- Pter B17 P13.3-PterC18 P13.3- Pter D19 P13.3- Pter
14- A2 B3 C4 D5
15 A BC D
16B- A BC D
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17DMDDMD ABCD
18 A B C PAHDCK
19A BC D
20SOUTHERNDNA A DNA BRNAC D
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1 A BC D
2 A B C D
3 A BC D
4 A BPCR CDNA D
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5 ADNA BPCRCDNAPCR DDNA
6ABmRNACD
7ADNARNABCD
8 A B C D
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9 AcDNA B CDNA DRNA10 A B C P D35S1 2DNA3 RFLP1234 12 34
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1A1976-2CX1
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3.D southern blot4.D
1DNARNADNARNA2DNADNA3Mg+Mg+4RNADNA5PH7.27.2
637945572
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5BPAGESSCPPAG6B DNADNAIIII7DDNADNA8C Sanger
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9A 3`5`243410A 11C 12A PCR/ASODNAASOPCR/SSCP/SEQUENCINGRT/PCRRFLP
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13A 14 B15C 16D 17C 18A19D 20A 1985JeffreysDNASouther blot DNARNA
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1 AB 2 ABCD MDNA3 A B C D 4 ABC5 ABC6ABD A D
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7AD 8ABCD 1 10-5~10-6 /10-7~10-8/2 3 49 ABCD10ABC
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1 (gene diagnosis) 2 DNADNA finger--printing 1985 SouthernDNASouthernDNA
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1 6123DNARNA4DNA5 DNAmRNA mRNA:a. 6
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2 mRNA 3DNAPCRDNAPCR41985DNA DNA
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1.
DNA RNA ,FOU, .,DNApg.
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12CMI3
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2
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(reverse genetics)1DNA2 DNA3DNA4genetic mark;5678
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1/// / / /PCR // 21 43