Part C: Lecture 12 Flashcards
mutations classified by (3) ___
-change in DNA
-change in mRNA
-change in protein structure
change in protein structure consequence’s (3)
-neutral mutations
-hypomorphic mutations
-amorphic mutations
neutral mutations results in ___
unaffected protein
hypomorphic mutations results in ___
reduced amount or activity of protein / reduced form
amorphic mutations results in ____
protein absent or nonfunctional
we can’t know the consequence of mutations on protein without ___
more information
organisms and their surroundings equation
Genotype + environment = Phenotype
Genes are named after two things: ___ & ___
mutant phenotype & protein it codes for
Alleles are named by two things: ____ & ____
discovery (ex. first - 1) & phenotype
Alleles are ___ to gene
superscript
Fly genes found online in ___
FlyBase
Human genes found online in ___
OMIN (online mendelian inheritance in Man)
Somatic cells come from ___
the body
Germline cells make ____
gametes
Somatic mutations result in ___
somatic cells with the mutations and can’t be passed on to offspring
Somatic mutant cells offspring will also ___
contain the mutations
Somatic mutations: the more cells with that mutation, ___
the earlier in development mutation occurred
Germline mutations:parent is ___ but offspring ___
-not affected
-is affected
With germline mutations. which cells of the offspring is affected by the mutation?
-all the cells (somatic and germline)
Germline mutations become ___
inherited mutations
Inherited mutations (def.)
they are passed on from parents to offspring, and each generation is affected
In plants, somatic mutations can become ___
inherited mutations
In animals, somatic mutations can’t become ____
inherited mutations become germline + somatic cells are separate
Mutations that happened before origin of species are mutations that ___
every member of species will have
pseudogenes (def.)
mutated non-functional gene that look like functional genes (ψHAA)
ψ is __
psi
mutations that happened many generations ago are mutations that ___
only some members of the species will have
mutations that happened in parent’s germline are mutations that ___
affect only the descendants of the parent
benzo[a]pyrene makes ___ bp substitutions
GC -> TA
p53 is a ____ that ___
positive TF that turns on genes that make DNA repair enzymes
Smoking -> benzo[a]pyrene mutates TP53 gene –>____
lung cancer (can’t make DNA repair enzymes)
TP53 gene makes ____
p53
do humans have disease causing genes?
No
Diseases are caused by mutations in ___
important genes
BRACA1 gene makes ___
DNA repair enzyme
most mutations occur where?
between genes
mutations between genes: two types
1) Single nucleotide polymorphisms (SNPs)
2) Short tandem repeats (STRs)
SNPs used in ___ (2)
gene mapping
genetic testing
STRs used in ___
DNA fingerprinting
