Molecular Basis of Disease Flashcards
What kind of mutation results in a product with a reduced or ablated function?
Loss of function mutation
What kind of mutation results in a product with a new and abnormal function?
Gain of function mutation
What type of mutation replaces one amino acid with another in the same gene product?
Missense mutation
What kind of mutation replaces an amino acid with a stop codon?
Nonsense mutation
What kind of mutation results in production of a trunated protein?
Nonsense mutation
What type of mutation is produced by deletions, insertions or splicing errors?
Frameshift mutations
What kind of mutations create or destroy splice donor or acceptor sites? What are the splicing possibilities following the mutation?
Splice Site mutations; Can either leave in the intron or could splice out an exon
What type of mutation chaneges the codon but does not alter the amino acid encoded?
Silent mutation
What are dynamic mutations?
Tandem repeats that expand in size
What is the trinucleotide expanded in myotonic dystrophy?
CTG
What does Arg117His mean with regard to mutation?
Arginine 117 was replaced with a histidine
What does G.1162G->A mean?
Genomic guanine 1162 replaced by adenine
What does F508del mean?
deletion of phenylalanine #508
What are modifier genes?
Genes that can alter the phenotype associated with a mutation
What is a compound heterozygote?
An individual with one allele that has one mutation and another allele that has a different mutation in the same gene
