Diagnostic Tools Flashcards
two types of clinical diagnostic tech
molecular and medical imaging diagnosis
technique used to analyze biological markers in the genome and proteome the individual’s genetic code and how their cells express their genes as proteins
molecular diagnosis
technique and process used to create images of the human body for clinical purposes or medical science
medical imaging diagnosis
functions of mass spectrometry
-measures mass better than any other technique and can give info about chem structures
what are mass measurements good for?
to identify, verify and quantitate: metabolites, recomb proteins, proteins isolated from natural sources…etc
how does mass spectrometer work
ion source: makes ions –> mass analyzer: separates ions based on their mass-charge ratio –> mass spectrum: presents info
key specifications of mass analyzers
resolution, mass measurement, accuracy and sensitivity
detection of the various pathogenic mutations in DNA and/or RNA samples in order to facilitate detection, diagnosis, subclassfication, prognosis and monitoring response to therapy
nucleic-acid based molecular diagnosis of human disorders
a genetic disease w/c is caused by a single nucleotide change in the 6th amino acid of the beta chain of hemog.
sicle cell anemia
who and when is the PCR invented
Kary Mullins (1985); noble prize in ‘93
Principles of PCR
- Temperature cycling: denaturation - 94, annealing -55, extension - 72
- every cycle DNA between primers is duplicated
* does exponential amplification
components of PCR rxn
- template DNA
- flanking primers
- thermo-stable polymerase (Taq polymerase)
- dNTP
- PCR buffer
- thermocycler
genetic disorder characterized by abnormal body movements and reduced mental abilities; caused by mutation of Huntingtin (HD) gene
huntington’s disease
individuals w/HD vs. non-HD individuals
non-HD: CAG repeats less than 30x
HD: CAG repeats more than 36x
How can someone determine if they have HD?
PCR can be performed; the DNA is amplified via PCR and sequenced and the number of the trinucleotide repeats is counted
retrovirus that attacks the immune system
HIV
principles of HIV test
HIV tests rely on PCR w. primers that will only amplify a section of the viral DNA found in an infected bodily fluid; pcr product = HIV+, no pcr prod = HIV-