Lecture 3.1: Genotypes and Inheritance

Question 1

Genotype

Answer 1

The genotype of an organism is its complete set of genetic material.

The genetic make-up of an individual.

Inherited

Question 2

Phenotype

Answer 2

It is the set of observable characteristics of an individual resulting from the interaction of the genotype with the environment

Not inherited

Question 3

What is Genetic Polymorphism?

Answer 3

Polymorphism is a term used in genetics to describe multiple forms of a single gene that exists in an individual or among a group of
individuals

Question 4

Aldehyde Dehydrogenase (ALDH) Polymorphism: What is ALDH2?

Answer 4

ALDH2 is a mitochondrial enzyme, abundant in liver, that is the most efficient enzyme to remove toxic acetaldehyde

Question 5

How is the variant ALDH2*2 produced?

Answer 5

The variant ALDH2*2 allele is caused by a single point mutation (G to A) in exon 12, which leads to an amino acid substitution from glutamine to lysine (E487K) rendering the enzyme catalytically inactive

Question 6

What is a Mendelian Trait?

Answer 6

One that is controlled by a single locus in an
inheritance pattern

Question 7

TERT Oncogene Activation

Answer 7

• TERT gene promoter mutations generate de
novo consensus binding motif for ETS/TCF
transcription factors resulting in increased
expression of TERT gene
• TERT gene promoter mutations are observed
in ~ 30% of primary melanomas

Question 8

PKU

Answer 8

In Disease Dictionary

Question 9

Beta Thalassemia

Answer 9

In Disease Dictionary