Mutations/chromosomes Flashcards
(11 cards)
how many chromosomes reside in a average human
46 chromosomes with 23 pairs
parts of a chromsome
chromatid, centrometer, DNA, Histones
when does down syndrome occur
when there is an extra chromosome in pair 21
when does edwards syndrome occur
when there is an extra chromosome in pair 18
when does patau syndrome occur
when there is an extra chromosome in pair 13
what is a silent mutation
when a change happens in the amino acid but it doesnt alter the codon
what is a missense mutation
When a single amino acid change happens which alters the polypeptide chain E.G Sickle cell
what is a nonsense mutation
When a prematre stop codon which truncates the polypeptide E.G cystic fiberosis
what are mutations
Alterations to the genes
What are frameshift mutations
When there is a addition or removal of a base which alters the reading frame of the gene.
What are the 4 ways you can get a mutation
inversion, deletion, subsitution, insertion
