Genetics Of Diseases

Question 1

Marfans

Answer 1

Autosomal dominant, fibrillin 1, elastic is abnormal

Question 2

Sickle cell

Answer 2

Autosomal recessive, red blood cells become hard and sticky and look C shaped

Question 3

Osteogenesis imperfecta

Answer 3

Autosomal dominant, Col1A/Col2A, brittle bone disease

Question 4

Cystic fibrosis

Answer 4

Autosomal recessive, secreted fluids become thickened

Question 5

Huntington’s

Answer 5

Autosomal dominant, progressive breakdown of nerve cells in brain

Question 6

Haemophilia A

Answer 6

X linked recessive, genetic bleeding disorder caused by insufficient Factor 8

Question 7

Achondroplasia

Answer 7

Autosomal dominant, FGF3, endochondrial hence long bones (spine and skull)

Question 8

Homocysteinuria

Answer 8

Autosomal recessive, body can’t process methionine

Question 9

Spherocytosis

Answer 9

Spectrin, inherited haemolytic anaemia, defect in erythrocyte membrane giving increased permeability, usually autosomal dominant

Question 10

Incontinentia Pigmenti

Answer 10

X linked dominant, ectoderm, skin hair teeth nails and CNS, usually lethal in men

Question 11

Ataxia Telangiectasia

Answer 11

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.

Problem with homology directed repair

Autosomal recessive

Question 12

Lynch syndrome

Answer 12

Autosomal dominant

Mutations in mismatch repair genes