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