Introduction to Genetics

Question 1

What are the 3 causes of disease?

Answer 1

1) Genetic e.g. Downs
2) Multifactorial e.g. Diabetes (Developed countries)
3) Environmental e.g. poor diet (underdeveloped)

Question 2

What is the Genotype?

Answer 2

Genetic constitution of an individual

Question 3

What is the Phenotype?

Answer 3

Appearance of individual from interaction with genotype and environment

Question 4

What is an allele?

Answer 4

One of several alternative forms of a gene at a specific locus

Question 5

What is polymorphism?

Answer 5

Frequent hereditary variations at a locus

Question 6

Definition between Homozygous and Heterozygous?

Answer 6

Homozygous Both alleles at locus are same

Question 7

Definition of Hemizygous?

Answer 7

Only one allele (Locus on X in male)

Question 8

Classifications of Genetic Disease? (3)

Answer 8

1) Chromosomal: (altered number/structure)
2) Mendelian (Single genetic variable)
3) Non-Traditional

Question 9

Autosomal Dominant Inheritance?

Answer 9

Disease which manifests itself in Heterozygous state

Question 10

X-Linked recessive inheritance?

Answer 10

Pathogenic variants in genes on the X Chromosome

Question 11

Why are mitochondria inherited from mothers?

Answer 11

Bulky organelle so can only fit inside eggs

Question 12

What are multifactorial conditions?

Answer 12

Diseases due to combination of genetic and environmental factors