Genes & Proteins In Health And Disease Flashcards
How are proteins made?
From chains of amino acids called polypeptides
How are polypeptide chains held in their 3D shape?
By hydrogen bonds and other molecular interactions between amino acids
What does protein function depend on?
The 3D shapes of the proteins molecule
What are the functions of proteins?
Act as structural units, enzymes, hormones and antibodies
What are mutations?
Random changes in genetic information.
What can mutations do?
Alter genes or chromosomes, can also result in no proteins or an altered protein being made.
What are single gene mutations?
They affect DNA nucleotide sequences
What are the 3 types of single gene mutations?
Substitution, insertion, deletion
What are the 3 types of single nucleotide substitutions?
Missense, nonsense, splice site
What does nucleotide insertions or deletions result in?
Frameshift mutations or expansion of a nucleotide sequence repeat
Why are mutations important?
For evolution
What type of mutations can alter gene expression?
Mutations in regulatory sequences
What can splice site mutations alter?
Post transcription processing
What do chromosome mutations involve?
Alterations to the structure of a chromosome.
What are the 3 types of chromosomal mutations?
Duplication, deletion, translocation
Give examples of illnesses that are caused by mutations.
Haemophilia
Sickle cel
Muscular dystrophy
