Genetics II - gene mutation Flashcards
phenotype
observalbe characteristic
genotype
genetic information encoded by genome
Point mutation
change in single base
- base substitution
- frameshift
base substitution
transitions - type of base doesn’t change
transversions - type of base changes
Frameshift
codon reading frame altered by deletion or insertion
gene located in promotor effects
change in gene expression
gene in regulatory sequence effects
altered expression regulation
gene in 3’ UTR effects
change in mRNA stability
gene in intron effects
altered mRNA splicing
gene in exon effects
change in amino acid sequencing
Ames test
measuring point mutations
- grind up liver
- mix cells w/ chemicals
- plate by differing level of chem concentration
- plate on bacteria w/indicator gene
HPRT Locus Deletion Assay
gene in x-chromosome
-codes for non-essential salvage pathway
-converts 6-TG into nucleotide
if you knock out HPRT gene, can’t use salvage pathway
Mutations from ionizing radiation
largely deletions
NHEJ
produces direct repeats…AT has defect in NHEJ of DNA ds breaks
Loss of Heterozygousity
from deletions - fits somatic mutation theory
