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Clinical Applications

Clinical Applications. 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

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Clinical Applications

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  1. Clinical Applications

  2. 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

  3. Infectious Diseases • MRSA • VRE • Group A Strep • Group B Strep • TB • HIV • HCV • CMV • Flu • Stop me when you’re bored…

  4. Autosomal Dominant PP Pp • 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

  5. 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

  6. Pharmacogenetics • Warfarin metabolism • Polymorphisms • VKORC1 • Vitamin K epoxide reductase complex 1 • CYP2C9 • Part of cytochrome P450 family • FDA testing recommended

  7. Applications of PCR DNA? RNA? 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

  8. 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

  9. 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)

  10. Example: Bcl-2

  11. 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)

  12. Virtual Tour

  13. 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

  14. Clean Room

  15. Clean (cont.)

  16. Clean (cont.)

  17. Pre-Room

  18. Pre-Room (cont.)

  19. Pre-Room (cont.)

  20. Pre-Room (cont.)

  21. Post-Room

  22. Post-Room (cont.)

  23. Post-Room (cont.)

  24. Post-Room (cont.)

  25. Post-Room (cont.)

  26. Post-Room (cont.)

  27. Post-Room (cont.)

  28. 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

  29. Summary • History and basics of molecular biology • Various Molecular Techniques • Clinical applications

  30. Multimedia Refresher https://kx.afms.mil/labreadinessskills

  31. Multimedia Refresher

  32. Questions

  33. 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

  34. 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

  35. 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/

  36. 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

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