gens and proteins in health and disease Flashcards
proteins are
made up from chains of amino acids called polypepyides
polypeptides chains
are held in their three-dimensional shapes by hydrogen bonds and other molecular interactions between individual amino acids
protein function
depends on the three-dimensional shapes of the proteins molecules
proteins functions include acting as structural units
enzymes
hormones
antibodies
muatations
are random changes in genetic information
mutations can alter
genes or chromosomes
mutations of genes result in
no protein or an altered protein being expressed
single gene mutations effect DNA nucleotide sequence and include
deletion
insertion
substitution
single nucleotides subsitutions
missense
nonsense
splice-site mutations
nucleotide insertions or deletions
result in frameshift mutations
mutations are important
in evoution
mutations of regulatory sequence can alter
gene expression
splice-sites mutations can alter
post-transcription processing
chromosomal mutations that involve alterations to the structure
duplication
deletion
translocation
human disses
haemophilia
sickle cell disease
subsitution
one base is substituted for another base
only 1 codon is affected
usually a functioning protein is produced
insertion
deletion
base is added=wrong protein produced
base is removed=wrong protein produced
deletion
a chunk of chromosome is removed
duplication
a chunk of chromosome is copied and added to the chromosome
deletion
duplication
viable gametes
inversion
a chunk of chromosome is removed , flipped 180 and re- inserted
translocation
a chunk of chromosome is removed from 1 chromosome and added to another chromosome
reciprocated- 2 chromosome swap chunks
non-recipitater- only 1 loses a chunk
inversion
translocation
non-viable gametes
