Genetics: Gene Testing and Single Base Variation Flashcards
promotor mutation
no, or reduced, transcription with no, or reduced, protein
splice consensus
altered end protein - introns stay, exons out - mRNA decay
base change making stop
short or absent protein as stop sequence too early
base change alters sequence
different or non-functioning protein
wild type sequence
normal
nonsense
stop codon too early
types of substitution
- silent
- neutral
- nonsense
- missense
silent
chnage in base but no change in amino acid
neutral
change in base and amino acid but overall protein is very similar or the same
missense
change in base, amino acid and protein function
deletion/insertion with frameshift
1/2 base(s) deleted/inserted and therefore codons are knocked out of normal and completely different amino acids
deletion/insertion without frameshift
3 bases deleted/inserted and therefore codons stay the same bar the inserted/deleted
triplet expansion
repeated triplet
p.
change in Protein sequence
c.
change in mRNA (Coding)
c. 9T > G
9th base was subsituted from T to G
p. ile122thr
122nd amino acid changed from ile to thr
what is a ter in terms of p.
stop codon
a genetic change shown in NGS may be what
- known polymorphism
- disease carrying mutation
- variant of unknown significance
how do you filter down changes seen in NGS
- ignore if known polymorphism
- keep if it cause the shown phenotype
- keep if it affects gene function
penetrance
liklihood of having a disease if gene mutation is present
mendelian disorders
diseases that segregate into families predicted by medelian laws
what is the penetrance of an autosomal dominant mutation
100%
disease can be (autosomal, etc)
- autosomal dominant
- autosomal recessive
- mitochondrial
- X-linked
medelian disorders are usually caused by what type of mutation and what is their penetrance
- single gene mutation
- 100% penetrance
