DNA Based Diagnostics- Lecture 9/28/21 Flashcards
Silent mutation
The vast majority of mutations, happen randomly and will never know
Germ line mutations
Heritable, could be any cell in the body
Somatic mutations
Acquired, can’t be passed on, only in certain tissue
Specimens used for genetic testing
- Whole blood (hereditary diseases)
- Saliva (alternatives to blood)
- Blood cards (hereditary diseases)
- Fibroblasts (hereditary diseases)
- Solid organ tissue/biopsies (solid cancer)
- Bone marrow (hematologic malignancies)
- Hair (crime scene)
Silent mutation
Mutation that does not alter gene product
Missense mutation
Mutation that alters one amino acid
Nonsense Mutation
Inserts a stop codon
Muscular dystrophy
Disease caused by deletion, disease severity determined by the amount of missing (normal) dystrophin
Tandem repeat sequences examples
Huntington and Fragile X
Insertions
Large range, can be very serious and alter gene product
Frameshift mutation
Caused by insertion or deletion not in groups of three
Splice site mutations
Mutation in GT or AG site of the introns, causes splicing issues
Null mutation
Loss of function, classic AR, one allele sufficient
Haploinsufficiency
AD/ incomplete dominant, heterozygous show more mild disease
Phenylketonuria
Classic null mutation, missing the enzyme that turns phenylalanine to tyrosine
