substitution mutations
mutation that occurs when a nucleotide base is randomly swapped for a different base, causes single nucleotide polymorphisms
insertion mutation
new base is randomly inserted, knock on effect: frameshift mutation
deletion mutation
base is randomly deleted, knock on effect, frameshift mutation
causes of mutation
radiation. eg. high energy radiation such as UV light or ionising radiation like x-rays
chemical substances. eg. tobacco smoke, mustard gas
random
randomness of mutations
some locations are more likely to mutate than others.
eg. uncoiled DNA has higher risk than tightly coiled because it is more exposed
mutation hot spots
non coding regions
effect of SNP
1- silent mutations, don’t affect amino acid sequence
2 - mis sense mutations, alter single amino acid
3 - nonsense mutations, premature stop codon
germ line
cells involved in inheritance of genetic information
mutation in somatic cells
not inherited but can cause cancer.
cancer starts when mutation occurs in genes that control cell division.
if mutated gene is the one that causes cancer: oncogene
gene knockout
finding function of gene by removing it or making it unusable in the genome
classed as a genetic engineering technique
new gene editing technique
CRISPR
clustered regularly interspaced short palindromic repeats
uses natural deffense bacteria evolved to cut DNA at specific point determined by a guide RNA attached to enzyme cas9
conserved sequence
section of DNA/RNA with minimal mutations. eg. proteins involved in cellular respiration or transcription and translation