1.2 Rare Disease

Question 1

Homozygous:

Answer 1

Carrying two identical copies of a specific allele.

Question 2

Heterozygous:

Answer 2

Carrying two different alleles of a specific gene.

Question 3

Recessive homozygote:

Answer 3

An individual with two recessive alleles, expressing the recessive phenotype due to the absence of a dominant allele.

Question 4

Recessive disease:

Answer 4

Requires two copies of a mutated gene for symptoms to appear.

Question 5

Huntington’s disease (HD):

Answer 5

Neurodegenerative disorder due to a dominant gene mutation. chromosome 4

Question 6

Cystic fibrosis (CF):

Answer 6

Inherited disease causing thick mucus due to recessive gene mutations. CFTR gene.

Question 7

Pathogenesis:

Answer 7

The development and progression of a disease.

Question 8

Erythrocytes:

Answer 8

Red blood cells responsible for carrying oxygen throughout the body.

Question 9

Anaemia:

Answer 9

Deficiency in red blood cells or hemoglobin, leading to fatigue and shortness of breath.

Question 10

Prevalence

Answer 10

The number of people in a population who have a given condition.