Genetic Variation from chromosomes to single bases 2

Question 1

What is a mutation?

Answer 1

A genetic variation that causes a disease

Question 2

What is polymorphism?

Answer 2

A genetic variation that is prevalent in the population and is not itself disease causing

Question 3

What is the wild type?

Answer 3

The normal/most common sequence

Question 4

What does redundancy mean?

Answer 4

When different codons canencode the same amino acid. So your RNAsequence can change and cause no effect onprotein sequence of amino acids.

Question 5

What is c. in nomenclature?

Answer 5

the change in the mature mRNA sequence (referenced to the first base of the chain)

Question 6

What is p. in nomenclature?

Answer 6

the change in the peptide sequence (referenced to the first amino acid of the chain)

Question 7

What types of filtering will a machine undergo to determine a mutation or polymorphism?

Answer 7

• Is it a known polymorphism
• Is it de-novo (affected child but healthy parents)
• Does it affect a gene

Question 8

What is the variant classification?

Answer 8

Class 1- Definitely a polymorphism
Class 2- Probably a polymorphism
Class 3- unclassifiable
Class 4- probably pathogenic
Class 5- definitely pathogenic

Question 9

What is Haploinsufficiency?

Answer 9

When one functioning allele does not produce enough polypeptide for a normal development or function

Question 10

What does dominant negative mean?

Answer 10

Mutant allele produces an abnormal polypeptide which interferes with the normal function

Question 11

What does Activating or Gain of function Mutation mean?

Answer 11

The mutation causes activation of a protein product or the product to be active in a different pathway.

Question 12

What is Loss of heterozygosity/ second hit?

Answer 12

A person has one mutant allele, but the phenotype is caused when a population of cells loses the second working allele through somatic mutation.