Translation Flashcards
Silent mutation
codon is changed but still encodes the same amino acid
Missense mutation
Codon is changed by one nucleotide and results in a new amino acid
Conservative Mutation
A missense mutation that results in a change of amino acid with similar properties to original amino acid
Nonsense mutation
mutation that results in a change from an amino acid to a stop codon
splice site mutations
changes in nucleotides involved in splicing RNA
What antibiotics prevent translation?
Tetracyclines, streptomycin, erythromycin, chloramphenicol
What toxins prevent translocation?
Diptheria and pseudomonas
Sickle cell anemia
missense mutation in the beta-globulin gene
glutamic acid changed to valine
PKU
Nonsense or frameshift mutation in the phenylalanine hydroxylase gene
Mental retardation
Cystic Fibrosis
Deletion in the CFTR gene
missing phenylalanine
lung disease
Beta-thalassemia
splice-site mutation
deficiency in the beta globin chains
Fragile X syndrome
trinucleotide repeat expansion in the 5’ NCR of the FMR-1 gene
mental retardation
most common known cause of autism
Myotonic Dystrophy
trinucleotide repeat expansion in the 3’ NCR of the protein kinase gene
sustained muscle contractions
Huntington Disease
Trinucleotide repeat expansion of the glutamine codon in huntingtin protein
neurodegenerative disorder
These enzymes recognize both nucleic acid sequences and particular amino acids
aminoacyl-tRNA synthetases
