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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
Sickle Cell Anemia: a Molecular Disease.P li & I li S i N b Pauling & Italiano. Science November 1949
Watson & Crick: 1953
l h i i ( )Polymerase Chain Reaction (PCR)
(Kary Mullis 1985)
DNADNA
chromosome
cell nucleus
Target Region for PCRTarget Region for PCRDouble stranded DNA molecule
IndividualIndividual nucleotides
Molecular Pathology: ApplicationsInherited DisordersCancerInfectious DiseasesHuman IdentificationOthers
Of the 5000 known Genetic Disorders2500 can be diagnosed by Genetic Analysis
P t l Di iIdentify Couple at Risk
Prenatal DiagnosisIdentify Couple at Risk
Pregnancy
Fetal Sampling
Lab DiagnosisAffected Fetus Normal Fetus
Termination of Pregnancy
Ch i i Vill S li (CVS)Chorionic Villus Sampling (CVS)
Prenatal Diagnosis of Thalassaemia
700
800
500
600
200
300
400
0
100
200
0
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
2012
2013
Molecular Diagnosis of CancerMolecular Diagnosis of Cancer
AFIP
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
JAK2 Mutation
Real Time PCR for Bcr‐abl
50%
100%
25%
12.5%
6.25%
3.12%
Negative
1.6%<1%
Infectious DiseasesViral
HCV, HBV, HIV, CMV, HPV, Dengue etc.Bacterial
TuberculosisA tibi ti i tAntibiotic resistance
ParasiticLeishmania MalariaLeishmania, Malaria
Others
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’
Real Time PCR for HCVReal Time PCR for HCV
Malaria
Human Identification(Forensic DNA Testing)
Donor Chimerism
DLI
A Mobile DNA LabA Mobile DNA Lab
GTI-16 DNA Thermal Cyclery
GTI 16 ABI 9700 (USA)GTI-16 ABI-9700 (USA)
GTI-PCR Reader-GGTI-PCR Reader-G
GTI-Microcentrifuge & Dry Bath
GTI-DC Power Supply
GTI PAGE A tGTI-PAGE Apparatus