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Clinical Applications
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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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PP Pp 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 PP Pp
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pp 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 pp
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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 PCR application
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
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Clean Room
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Clean (cont.)
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Clean (cont.)
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Pre-Room
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Pre-Room (cont.)
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Pre-Room (cont.)
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Pre-Room (cont.)
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Post-Room
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Post-Room (cont.)
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Post-Room (cont.)
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Post-Room (cont.)
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Post-Room (cont.)
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Post-Room (cont.)
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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
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Multimedia Refresher
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Questions
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Graphics References http://www.linnaeus.uu.se
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Graphics References (cont.)
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Graphics References (cont.)
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Graphics References (cont.)
Genes VIII, Pearson/Prentice Hall Concepts of Genetics, Pearson/Prentice Hall
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