Karyotype = complete set of all chromosomes of a cell of a living organism
Chromosomes have bands
3 X chromosome 21 = Down Syndrome
Chromosomal numerical abnormalities can occur
- Aneuploidy = Extra chromosomes – often lethal
- Missing Chromosomes
Chromosomal rearrangements can occur – often due to breakage in DNA double helix at 2 different
locations – re-joining of broken ends = new arrangement of genes
In situ Hybridization = Nucleic acid hybridization (Annealing of single strands) with labelled probe –
detects location of specific mRNA in particular organism
E.g. – of Fluorescence in situ Hybridization (FISH)
RFLP = Restriction Fragment Length Polymorphism
- Relies on use of Restriction enzymes/endonucleases – cut DNA at specific locations
- Protect bacterial cells by cutting foreign DNA from other organisms/phages
- Recognises specific DNA seq./site – cuts both strands at said site
SNP = Substitution of single nucleot. – at specific location of genome
Gel electrophoresis:
After Recombinant Plasmid = copied in host cell – fragments can be cut out again – and separated
and visualised by Gel electrophoresis.
- Gel = polymer – separates fragments by length
- Gel = in aq. and buffered solution – current = on
- DNA = -ve charge – moves to +ve cathode
- Longer fragments move slower – more resistance with gel
- DNA binding dye = added – pink in UV light – current = off
- Bands of the same length will be seen together
PCR:
- In Vitro process – outside organism
- Amplifies DNA