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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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testing categories
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
infectious diseases
Infectious Diseases
  • MRSA
  • VRE
  • Group A Strep
  • Group B Strep
  • TB
  • HIV
  • HCV
  • CMV
  • Flu
  • Stop me when you’re bored…
autosomal dominant
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
autosomal recessive
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

pharmacogenetics
Pharmacogenetics
  • Warfarin metabolism
    • Polymorphisms
      • VKORC1
        • Vitamin K epoxide reductase complex 1
      • CYP2C9
        • Part of cytochrome P450 family
    • FDA testing recommended
applications of pcr
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
example mrsa
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
example bcl 2
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)
example bioterrorism
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)
test menu
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
digene hybrid capture ii technology
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
summary
Summary
  • History and basics of molecular biology
  • Various Molecular Techniques
  • Clinical applications
multimedia refresher
Multimedia Refresher

https://kx.afms.mil/labreadinessskills

graphics references
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
graphics references cont
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
graphics references cont1
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/
graphics references cont2
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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