providing great care… building warrior medics! clinical applications
TRANSCRIPT
Providing Great Care… Building Warrior Medics!
Clinical Applications
Providing Great Care… Building Warrior Medics!
Testing Categories
Molecular Diagnostic Labs Infectious diseases
Bacterial, viral genes
Genetic testing Autosomal dominant/recessive Heterozygous, Homozygous
Wild-type vs. Mutant vs. Carrier
Pharmacogenomics or pharmacogenetics Subsection of genetic testing Genes affecting drug metabolism
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Infectious Diseases
MRSA
VRE
Group A Strep
Group B Strep
TB
HIV
HCV
CMV
Flu
Stop me when you’re bored…
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Autosomal Dominant
Achondroplasia Antithrombin deficiency Cleft Chin Familial hypercholesterolemia Facioscapulohumeral muscular dystrophy Hereditary spherocytosis Huntington's Disease Hypertrophic cardiomyopathy Malignant hyperthermia Marfan Syndrome Neurofibromatosis Pfeiffer syndrome Polycystic Kidney Disease
PPPP
PpPp
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Autosomal Recessive
Cystic fibrosis Tay-Sachs disease Chronic granulomatous disease Thalassemia Alpha 1-antitrypsin deficiency Haemochromatosis types 1-3 Wilson's disease Homocystinuria Galactosemia Glucose-6-phosphate dehydrogenase deficiency Phenylketonuria Albinism Certain forms of Spinal muscular atrophy Xeroderma pigmentosum
pppp
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Pharmacogenetics
Warfarin metabolism Polymorphisms
VKORC1
Vitamin K epoxide
reductase complex 1
CYP2C9
Part of cytochrome
P450 family
FDA testing recommended
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Applications of PCR
Ubiquitous
PCR, qRT-PCR, RT-PCR Current utility:
High level sensitivity/specificity
Rapid, specific microbial detection
Some cancers
Genetic diseases
Test development/research limiting factors
DNA?
RNA?PCR?
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Example: MRSA
Coagulase positive Staphylococcus sp. Case confirmed ICU via
standard methods 2 cases confirmed on other
wards earlier How would PCR be useful?
Rapid confirmation of MRSA on ICU pt
Investigate genetic connections Environmental testing for
infection control
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Example: Bcl-2
Translocation of Bcl-2 gene 18 to 14 at Ig heavy chain locus
Overproduction of Bcl protein
Apoptosis is hindered leading to neoplasia Follicular lymphoma
PCR application Use 2 different primers to catch t(14:18)
Bcl-2 and JH (heavy chain)
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Example: Bcl-2
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Example: Bioterrorism
Mysterious white powder PCR application
Use primers/probes - R/O malevolent incident
Check for B. anthracis virulence factors LF, PA, EF, and CAP
(poly-D-glutamyl capsule via pXO2)
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Virtual Tour
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Test Menu
HPV (high risk)
HIV load
HCV qual.
CMV
B. henselae
M. tuberculosis
CF screen
Sex determination
HEMONC
TCR Gamma
rearrangement
BCR/ABL qual./quant.
BCL-2 translocation
FVL (FV R506Q)
PT G20210A
Clean Room
Clean (cont.)
Clean (cont.)
Pre-Room
Pre-Room (cont.)
Pre-Room (cont.)
Pre-Room (cont.)
Post-Room
Post-Room (cont.)
Post-Room (cont.)
Post-Room (cont.)
Post-Room (cont.)
Post-Room (cont.)
Post-Room (cont.)
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Digene Hybrid Capture II Technology
HPV (high risk) Combination of technologies
Classic sandwich Denature DNA Hybridize to RNA probe Capture hybrids React w/ tagged Abs Add Chemiluminescent
substrate Detect signal
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Summary
History and basics of molecular biology
Various Molecular Techniques
Clinical applications
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Multimedia Refresher
https://kx.afms.mil/labreadinessskills
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Multimedia Refresher
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Questions
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Graphics References
http://www.linnaeus.uu.se
http://www.vetmed.uni-giessen.de
http://www.devicelink.com
http://www.people.virginia.edu
http://www.msu.edu
http://www.mie.utoronto.ca
http://www.concord.org
http://www.rothamsted.bbsrc.ac.uk
http://www.carkanmoil.com
http://www1.qiagen.com
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Graphics References (cont.)
http://textbookofbacteriology.net http://www.vet.ed.ac.uk http://nitro.biosci.arizona.edu http://wikipedia.org http://www.blobs.org http://www8.georgetown.edu http://www.offthemarkcartoons.com http://www.cartoonstock.com http://depts.washington.edu http://www.cdphe.state.co.us http://content.answers.com
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Graphics References (cont.)
http://www.edisonticker.com/
http://www.lionden.com/
http://www.dadamo.com/wiki/
http://distancelearning.ksi.edu/demo/bio378/
http://www.cnx.org/
http://www.bact.wisc.edu/
http://kconline.kaskaskia.edu/bcambron/
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/
http://kvhs.nbed.nb.ca/gallant/biology/
http://biochem.ncsu.edu/faculty/maxwell/
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Graphics References (cont.)
http://ghs.gresham.k12.or.us/science
http://fig.cox.miami.edu/~cmallery/255/255chem/
http://maxiangru.blogspot.com/
http://www.thetutorstudio.com/
http://www.sciencecartoonsplus.com/
Genes VIII, Pearson/Prentice Hall http://www.ergito.com
Concepts of Genetics, Pearson/Prentice Hall