Genetics: Gene Testing and Single Base Variation

Question 1

promotor mutation

Answer 1

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

Question 2

splice consensus

Answer 2

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

Question 3

base change making stop

Answer 3

short or absent protein as stop sequence too early

Question 4

base change alters sequence

Answer 4

different or non-functioning protein

Question 5

wild type sequence

Answer 5

normal

Question 6

nonsense

Answer 6

stop codon too early

Question 7

types of substitution

Answer 7

• silent
• neutral
• nonsense
• missense

Question 8

silent

Answer 8

chnage in base but no change in amino acid

Question 9

neutral

Answer 9

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

Question 10

missense

Answer 10

change in base, amino acid and protein function

Question 11

deletion/insertion with frameshift

Answer 11

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

Question 12

deletion/insertion without frameshift

Answer 12

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

Question 13

triplet expansion

Answer 13

repeated triplet

Question 14

p.

Answer 14

change in Protein sequence

Question 15

c.

Answer 15

change in mRNA (Coding)

Question 16

c. 9T > G

Answer 16

9th base was subsituted from T to G

Question 17

p. ile122thr

Answer 17

122nd amino acid changed from ile to thr

Question 18

what is a ter in terms of p.

Answer 18

stop codon

Question 19

a genetic change shown in NGS may be what

Answer 19

• known polymorphism
• disease carrying mutation
• variant of unknown significance

Question 20

how do you filter down changes seen in NGS

Answer 20

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

Question 21

penetrance

Answer 21

liklihood of having a disease if gene mutation is present

Question 22

mendelian disorders

Answer 22

diseases that segregate into families predicted by medelian laws

Question 23

what is the penetrance of an autosomal dominant mutation

Answer 23

100%

Question 24

disease can be (autosomal, etc)

Answer 24

• autosomal dominant
• autosomal recessive
• mitochondrial
• X-linked

Question 25

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

Answer 25

• single gene mutation

- 100% penetrance