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遗传性疾病的分子诊断 PowerPoint PPT Presentation


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遗传性疾病的分子诊断. —— 诊断策略和工具. 上海第二医科大学附属瑞金医院 樊绮诗. 用分子生物学技术通过检测基因而达到诊断疾病的目的是生物学者在分子生物学技术发展的最初阶段就有的设想。 1976 年人们开始在实验室进行研究, 1984 年以来,基因检测在许多国家已成为常规项目,主要用于遗传性疾病的诊断。. 一、遗传性疾病的分类. 常染色体连锁遗传性疾病 —— 致病基因位于常染色体 性染色体连锁遗传性疾病 —— 致病基因位于性染色体. 常染色体连锁遗传性疾病.

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遗传性疾病的分子诊断

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19761984


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  • (7q31)


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  • Huntington(4p16.3)


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  • X ()

  • Y


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  • DNA


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XCGG

GAA


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DNA DNA


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()

  • DNA

    1Southern

    DNADNA


2 pcr

2PCR

PCR


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2.

1

aPCR-RFLP

PCR


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b

  • PCR15~20bp20DNATm 5~7.5PCR


C pcr elisa

CPCR-ELISA

PCRELISAdNTPBio-16-dUTP311-DIG-ddUTP


D oligonucleotide ligation assay ola

doligonucleotide ligation assayOLA

2ABAB53A3B5A5B3A3PCRELISAPCR


E dna dna chip

eDNADNA chip

(


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  • 2(ONAcDNACDA


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2

a) single-strand conformational

polymorphismSSCP

DNAPCR

DNA

DNASSCP

150~200bpDNA


B dgge

b) DGGE

  • DNA(Tm)2TmPCRPCR PCR TmTm


C heteroduplex analysis ha

c)heteroduplex analysisHA

DNADNA


D melting curve analysis

d) (melting curve analysis

DNATmTm(DHPLC)WAVE DNALightCycler


E dideoxy fingerprinting ddf

e)dideoxy fingerprintingddF

SSCPSangerPCR 2 sanger


F dna dna sequencing

f.DNADNA sequencing

Sanger

DNAdNTP23-ddNTPDNAdNTPddNTPddNTPDNA


G protein truncation test ptt

g)protein truncation testPTT

RNAcDNAcDNAPCR


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3.

  • PCR

  • Southern


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4.

  • PCR

    1. DNA

    2. (TaqMan probe)

    3. (

    (fluorescence resonance energy transfer,

    FRET)


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1.

  • RFLP

    DNAbi-allele

    Southern


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2.

  • variable number tandem repeatsVNTR), DNA6 ~70bp10 RFLP

    SouthernPCR


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  • (microsatellite)

    2~6bp(STR)


3 single nucleotide polymorphism snp

3. single nucleotide polymorphismSNP

DNA300

DNA


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1

2

8

7

C50: C49: C45: C44: Cjp:

11223

C50: C49: C45: C44: Cjp:

12212

21313

3

4

5

6

15

16

17

18

10

11

12

13

14

9

C50: C49: C45: C44: Cjp:

21121

21313

C50: C49: C45: C44: Cjp:

21121

21313

C50: C49: C45: C44: Cjp:

21121

12212

C50: C49: C45: C44: Cjp:

12212

C50: C49: C45: C44: Cjp:

21313

C50: C49: C45: C44: Cjp:

11223

12212

20

21

19

C50: C49: C45: C44: Cjp:

21313

C50: C49: C45: C44: Cjp:

21313

22

23


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1

2

5.8 5.8 2.8 3.4 4.5 4.5 0.9 0.9 0.9 N N N 4.8 4.8 4.8 5 5 5

1 2 3 4

5.8 5.8 2.8 5.84.5 3.4 4.5 4.50.9 0.9 0.9 0.9N N N N4.8 4.8 4.8 4.85 5 5 5


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1

2

4

3

5

6

5.8 2.8 4.8 4.8 1.2 0.9 inv N 5 5

7

8

9

10

11

5.8 4.8 1.2 inv 5

5.8 4.8 0.9 N 5

2.84.80.9 - 5

5.8 4.8 1.2 inv 5

5.8 4.8 0.9 N 5

2.84.80.9 - 5

12


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  • DNARNA


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  • 16~20

    8~12


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DMD

MDDystrophin


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