Molecular diagnosis Flashcards
DNA moves towards which end during electrophoresis?
The anode or positively charged end
What are plasmids used for?
Gene cloning
Gene cloning is used to make … for diabetics
Proinsulin
What are the 3 temperatures key for PCR?
95, 55, 75-80
What is SDS-PAGE electrophoresis used for?
Separating proteins by molecular weight
What molecular method separates proteins by their isoelectric points?
Isoelectric focussing
Why do ddNTPs cause strand termination in DNA sequencing?
ddNTP’s lack a 3’OH group so polymerisation cannot occur
What is Southern Blotting used for? (3)
To detect large deletions/duplications
To detect gene expansions e.g. Huntington’s and Fragile X
To investigate variations e.g. DNA fingerprinting
Northern blotting is used to visualise ……
RNA
What is the advantage of reverse transcriptase PCR?
It allows for allele specific PCR to find abnormalities
What is the purpose of microarray technology?
It allows for the simultaneous investigation of many hundreds of thousands of DNA or RNA fragments
What is karyotyping?
It is the systematic sorting of metaphase chromosomes according to chromosome number
What is fluorescence in situ hybridisation (FISH) used for?
It is used for investigating specific DNA sequences on chromosomes inside the cell
Allele specific probes can detect ……. …… mutations
Single base mutations
What is proteonomics?
The analysis of all proteins expressed from a genome
What is an epitope?
The specific amino acids on a protein antibodies recognise
What is enzyme-linked immunoabsorbent assay (ELISA) ?
It is a technique using an antibody linked to an enzyme used to quantify the amount of a molecule . It is used in diagnostics tests to measure the concentration of biological molecules in solution
Alanine transaminase is a serum marker for …….
Pancreatitis
What is considered the gold standard of myocardial infarction detection?
Elevation in cardiac troponin 1 by ELISA
What is the clinically important serum enzyme used as a marker for liver damage or disease?
Aspartate transaminase
How is DNA protected from restriction enzymes?
By methylation
