Module 2 Flashcards
SNP
Most common type of genetic variation. Every 300 bases
Candidate SNP
One variant in a sample of 10
Validated SNP
Occur in a population at least 1% of the time
CNV
Segment of DNA that is 1000 bases or larger. Refers to gains and losses of DNA
Germline mutation
Inherited from a parent, present in DNA of all cells
Somatic mutation
Not inherited, DNA change in only one cell and subsequent cells
Spontaneous mutations
Occurs without external exposure to mutagens
Induced mutations
caused by a mutagen like radiation or chemicals
De novo mutation
Genetic disease appears in someone with no family history
Mutational hot spots
Mutations occur more often in regions with repeats
Transposons
A type of spontaneous mutation where genes jump or copy and paste themselves into new regions of the genome
Mutagens
Do not cause specific muatations
Ionizing radiation
Causes breaks in DNA. Most natural radiation exposure
DNA repair 4 types
Nucleotide excision, base excision, mismatch, double stranded breaks
Point mutations
Single nucleotide change
Sickle cell anemia
Classic example of a point mutation
Nonsense mutation
Changes a codon into a stop
Readthrough mutation
Stop codon is changed to an amino acid
Splice-site mutation
point mutation occurring where intron/exons meet and disrupts splicing
Deletion
Removes DNA
Insertion
Adds nucleotides
Expanding triplet repeat
Number of repeats increases with each generation
Paternal age effect
Frequency of mutations in sperm increases with age
LOF
No protein produced or does not function properly
GOF
New and different function protein
Allelic disorders
Mutations in the same gene lead to different phenotypes
Conditional mutation
Affects the phenotype only under certain circumstances
