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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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