Genetics: Gene Testing and Single Base Variation Flashcards Preview

Principles > Genetics: Gene Testing and Single Base Variation > Flashcards

Flashcards in Genetics: Gene Testing and Single Base Variation Deck (25)
Loading flashcards...
1
Q

promotor mutation

A

no, or reduced, transcription with no, or reduced, protein

2
Q

splice consensus

A

altered end protein - introns stay, exons out - mRNA decay

3
Q

base change making stop

A

short or absent protein as stop sequence too early

4
Q

base change alters sequence

A

different or non-functioning protein

5
Q

wild type sequence

A

normal

6
Q

nonsense

A

stop codon too early

7
Q

types of substitution

A
  • silent
  • neutral
  • nonsense
  • missense
8
Q

silent

A

chnage in base but no change in amino acid

9
Q

neutral

A

change in base and amino acid but overall protein is very similar or the same

10
Q

missense

A

change in base, amino acid and protein function

11
Q

deletion/insertion with frameshift

A

1/2 base(s) deleted/inserted and therefore codons are knocked out of normal and completely different amino acids

12
Q

deletion/insertion without frameshift

A

3 bases deleted/inserted and therefore codons stay the same bar the inserted/deleted

13
Q

triplet expansion

A

repeated triplet

14
Q

p.

A

change in Protein sequence

15
Q

c.

A

change in mRNA (Coding)

16
Q

c. 9T > G

A

9th base was subsituted from T to G

17
Q

p. ile122thr

A

122nd amino acid changed from ile to thr

18
Q

what is a ter in terms of p.

A

stop codon

19
Q

a genetic change shown in NGS may be what

A
  • known polymorphism
  • disease carrying mutation
  • variant of unknown significance
20
Q

how do you filter down changes seen in NGS

A
  • ignore if known polymorphism
  • keep if it cause the shown phenotype
  • keep if it affects gene function
21
Q

penetrance

A

liklihood of having a disease if gene mutation is present

22
Q

mendelian disorders

A

diseases that segregate into families predicted by medelian laws

23
Q

what is the penetrance of an autosomal dominant mutation

A

100%

24
Q

disease can be (autosomal, etc)

A
  • autosomal dominant
  • autosomal recessive
  • mitochondrial
  • X-linked
25
Q

medelian disorders are usually caused by what type of mutation and what is their penetrance

A
  • single gene mutation

- 100% penetrance

Decks in Principles Class (65):