Classification of Mutation: Translation

Question 1

Silent mutation

Answer 1

• Change in base sequence that does not result in a change of amino acid and thus the protein - Synonymous

Question 2

Nonsense mutation

Answer 2

• A stop codon is created - results in truncated protein with DNA is translated - Termination

Question 3

Neutral mutation

Answer 3

Change in amino acid encoded to one with a similar function

Question 4

Frameshift

Answer 4

Shifts triplet reading of codons out of correct phase

Question 5

Reversion mutation

Answer 5

A back mutation - sequence reverts to wild-type

Question 6

Suppressor Mutation

Answer 6

Mutation cancels out (partially or totally) the effect of another mutation elsewhere on the genome

Question 7

Allele

Answer 7

One of diff forms of a gene / DNA sequence

Question 8

Variant / Polymorphism

Answer 8

Occurrence of more than one allele in the population

Question 9

Haploinsufficiency

Answer 9

When one copy of a gene is not enough to give the wild-type sequence

Question 10

Haplosufficiency

Answer 10

A single copy of the allele is enough to give wild-type phenotype

Question 11

Homozygous

Answer 11

Diploid cell / organism containing 2 identical alleles of a gene/DNA sequence

Question 12

Heterozygous

Answer 12

A diploid cell / organism containing 2 different alleles of a gene / DNA sequence

Question 13

Dominant allele / mutation

Answer 13

Allele expressed in the phenotype of a heterozygote
- Due either to haploinsufficiency or gain of function mutation

Question 14

Recessive allele / mutation

Answer 14

Allele that is not expressed in the phenotype of a heterozygote
- Usually due to one copy of the WT gene producing enough protein for normal function - haplosufficient

Question 15

Penetrance

Answer 15

Percentage of individuals who exhibit phenotype of allele
e.g. % of those with a diesease

Question 16

Expressivity

Answer 16

Level to which the phenotype is expressed
e.g. how severe a disease is