SNP and Mutation in DNA Sequence

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What is the main function of Tumour Suppressor genes?

To protect cells from cancer (correct)

To acquire a loss of function mutation

To help cells grow

To convert proto-oncogenes

What type of mutation is required to convert a proto-oncogene into an oncogene?

Gain of function mutation (correct)

Loss of function mutation

Molecularly recessive mutation

Molecularly dominant mutation

What is true about oncogenes?

They need to be over-activated by mutations (correct)

They are always molecularly recessive

They are normally inactive in cells

They need to be inactivated by mutations

What type of mutation is required to inactivate a Tumour Suppressor gene?

Loss of function mutation Signup and view all the answers

What is true about Molecularly Dominant oncogenes?

Only one defective copy of the gene is required to provide oncogenic phenotype Signup and view all the answers

What is the notation for a substitution of the C nucleotide at position 4375 with a T?

c.4375C>T Signup and view all the answers

What is the definition of a SNP?

A single DNA base variation found in more than 1% of a population Signup and view all the answers

What is the notation for the duplication of nucleotides from position 4375 to 4385?

c.4375_4385dupCGATTATTCCA Signup and view all the answers

What is the notation for the deletion of nucleotides from position 4375 to 4379?

c.4375_4379delCGATT Signup and view all the answers

What is the purpose of the COSMIC database?

To collect and integrate somatic mutation data Signup and view all the answers

What is the primary reason for genetic variations in humans?

Insertions, deletions, and mutations of nucleotide base Signup and view all the answers

What is the notation for a protein mutation of Arg to His at position 11?

p.Arg11His Signup and view all the answers

What is the most common type of genetic variation amongst people?

Single Nucleotide Polymorphism (SNP) Signup and view all the answers

What is the effect of genetic variations in the coding region on the amino acid sequence?

It alters the amino acid sequence Signup and view all the answers

What percentage of DNA sequence is shared among all humans?

99% Signup and view all the answers

Why do some people respond to treatment and not others?

Due to genetic variations Signup and view all the answers

What is the result of genetic variation in terms of physical characteristics?

Variation in physical characteristics, such as hair color and skin color Signup and view all the answers