Genes And Proteins In Health Amd Disease Flashcards
What are proteins made up of?
Chains of amino acids called polypeptides.
How are polypeptide chains held in their three dimensional shapes?
By hydrogen bonds and other molecular interactions between individual amino acids.
What does the protein function depend on?
Protein function depends on the three dimensional shapes of the protein’s molecules.
Give four examples of functions of proteins.
- acting as structural units
- enzymes
- some hormones
- antibodies
What are mutations?
Mutations are random changes in genetic information.
Mutations are: ROLF
>Random in
>Occurrence and
>Low in
>Frequency
Mutations can alter genes or chromosomes.
What can mutations of genes result in?
No protein being made or an altered protein being expressed
Give examples of single gene mutations?
- deletion of nucleotides
- insertion of nucleotides
- substitution of nucleotides
Give an account of single nucleotide SUBSTITUTIONS.
Single nucleotide substitutions include missense, nonsense and splice-site mutations
Give an account of nucleotide INSERTIONS or DELETIONS.
Insertions or deletions result in frameshift mutations or expansion of a nucleotide sequence repeat.
What chromosome mutations involve alterations to the structure of a chromosome?
Duplication, deletion (of genes) and translocation.
Give an example of human diseases caused by mutations.
Haemophilia and Sickle Cell Disease.
Description of substitution.
One nucleotide removed from a DNA sequence and replaced with a different base.
Description of insertion.
Additional nucleotide added into a DNA sequence.
Deletion description.
Nucleotide removed from a DNA sequence but not replaced with another.
Deletion (of genes) description.
Detached genes are lost completely.
