Genes and Proteins in Health and Disease: Key Area 1.4 Flashcards
What are proteins made up of?
Chains of amino acids called polypeptides
What are polypeptide chains held in their three dimensional shape by?
Hydrogen bonds and other molecular interactions
What do a proteins functions depend on?
The three dimensional shapes of the proteins molecules
What do a proteins functions include?
Acting as:
- structural units
- enzymes
- some hormones and antibodies
What are mutations?
Random changes in genetic information
What can mutations alter?
Genes or chromosomes
What can mutations in genes result in?
No protein or an altered protein being expressed
What do single gene mutations affect?
DNA nucleotide sequence and include deletion, insertion and substitution of nucleotides
What do single nucleotide substitutions include?
- missence
- nonsense
- splice site mutations
What do nucleotide insertions or deletions result in?
Frameshift mutations or expansion of a nucleotide sequence repeat
What can mutations of regulatory sequences alter?
Gene expression
What can splice site mutations alter?
Post transcription processing
What are chromosome mutations that involve alterations to the structure of a chromosome called?
- duplication
- deletion
- translocation
