GeneticsGenetics Resource Centre (GRC)...
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Maj Gen (R) Suhaib Ahmed HI (M)Maj Gen (R) Suhaib Ahmed, HI (M)MBBS; MCPS; FCPS; PhD (London)
Genetics Resource Centre (GRC) Genetics Resource Centre (GRC) Rawalpindi
www.grcpk.com
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Sickle Cell Anemia: a Molecular Disease.P li & I li S i N b Pauling & Italiano. Science November 1949
Watson & Crick: 1953
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l h i i ( )Polymerase Chain Reaction (PCR)
(Kary Mullis 1985)
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DNADNA
chromosome
cell nucleus
Target Region for PCRTarget Region for PCRDouble stranded DNA molecule
IndividualIndividual nucleotides
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Molecular Pathology: ApplicationsInherited DisordersCancerInfectious DiseasesHuman IdentificationOthers
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Of the 5000 known Genetic Disorders2500 can be diagnosed by Genetic Analysis
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P t l Di iIdentify Couple at Risk
Prenatal DiagnosisIdentify Couple at Risk
Pregnancy
Fetal Sampling
Lab DiagnosisAffected Fetus Normal Fetus
Termination of Pregnancy
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Ch i i Vill S li (CVS)Chorionic Villus Sampling (CVS)
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Prenatal Diagnosis of Thalassaemia
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Molecular Diagnosis of CancerMolecular Diagnosis of Cancer
AFIP
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Molecular MarkersMolecular Markers• CML bcr-ablCML bcr abl• ALL bcr-abl, Ig-gene, TCR-gene • AML M2 t(8;21)AML M2 t(8;21)• AML M3 t(15;17)• AML M4Eo inv(16)• AML M4Eo inv(16)• NHL bcl-II, Ig-gene, TCR-gene• MPD JAK2 mutation• MPD JAK2 mutation
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JAK2 Mutation
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Real Time PCR for Bcr‐abl
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3.12%
Negative
1.6%<1%
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Infectious DiseasesViral
HCV, HBV, HIV, CMV, HPV, Dengue etc.Bacterial
TuberculosisA tibi ti i tAntibiotic resistance
ParasiticLeishmania MalariaLeishmania, Malaria
Others
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R Q
5’3’
3’
5’
Primer-F 3’5’ Taqman Probe(A)
5’ 3’
3’ Primer-R5’
R Q
5’3’
3’Primer-F 3’
5’
(B)
5’ 3’
3’ Primer-R5’
Q
5’3’
3’Primer-F
R(C)
5’
5’
3’ Primer-R5’
3’
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Real Time PCR for HCVReal Time PCR for HCV
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Malaria
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Human Identification(Forensic DNA Testing)
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Donor Chimerism
DLI
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A Mobile DNA LabA Mobile DNA Lab
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GTI-16 DNA Thermal Cyclery
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GTI 16 ABI 9700 (USA)GTI-16 ABI-9700 (USA)
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GTI-PCR Reader-GGTI-PCR Reader-G
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GTI-Microcentrifuge & Dry Bath
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GTI-DC Power Supply
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GTI PAGE A tGTI-PAGE Apparatus