The Contribution of Genetic Changes to Human Disease Flashcards
What is a single nucleotide substitution?
A straight substitution of one base for another
What is a transition mutation?
A substitution which conserves the base chemistry
What is a transversion mutation?
A substitution that changes the base chemistry
What is deletion?
A loss of a single base or a block of sequence
What is insertion?
Insertion of a single base or block of sequence between two bases
What is tandem duplication
Tandem duplication is where the inserted material is identical
What is inversion?
A block of sequence is inverted
What is translocation?
A block of one chromosome breaks off and joins another
What is a silent substitution?
Doesn’t affect the protein directly but may affect splicing
What is a missense substitution?
Causes single amino acid change Whose effect can be neutral or harmful
What is a nonsense substitution?
Causes premature termination of reading frame so protein is truncated
What is a amorph and hypomorph?
Amorph - a variant that causes complete loss of gene function
Hypomorph - a variant that causes a partial loss of gene function
What is a hypermorph, antimorph and neomorphic?
Hypermorph - a variant that causes an increase in normal gene function
Antimorph - dominant alleles that act in opposition to normal gene activity
Neomorphic - variants that cause a dominant gain of gene function that is different from normal function
What are gangliosides?
Critical for membrane stability
Produced by SIAT9 gene which encodes for GM3 synthase
