Hereditary Disease Inheritance

Question 1

Amelogenesis imperfecta

Answer 1

X-linked dominant

Question 2

Hemophilia A

Answer 2

x-linked recessive

Question 3

Neurofibromatosis type I

Answer 3

Autosomal dominant

Question 4

Sickle cell anemia

Answer 4

Autosomal recessive

missense mutation, 6th AA; Glu–>Val

Question 5

Hypophosphatemia (Rickets)

Answer 5

X-linked dominant

Question 6

Duchenne muscular dystrophy

Answer 6

X-linked recessive

Question 7

Li-Fraumeni syndrome

Answer 7

Autosomal dominant

Question 8

Hereditary non-polyposis colorectal cancer (HNPCC), ie lynch syndrome

Answer 8

Autosomal recessive

Question 9

Fragile X syndrome

Answer 9

X linked dominant (trinucleotide repeat)

Question 10

Red-green colour blindness

Answer 10

X linked recessive

Question 11

Huntington chorea

Answer 11

autosomal dominant (trinucleotide repeat)

Question 12

Cystic fibrosis

Answer 12

autosomal recessive

Question 13

Alport syndrome

Answer 13

x linked dominant

Question 14

Hemophilia B

Answer 14

x linked recessive

Question 15

Achondroplasia

Answer 15

autosomal dominant

Question 16

PKU (phenylketonuria)

Answer 16

autosomal recessive

Question 17

Marfans syndrome

Answer 17

autosomal dominant

Question 18

osteogenesis imperfecta

Answer 18

autosomal dominant

Question 19

Albinism

Answer 19

autosomal recessive

Question 20

Familial hypercholesterolemia

Answer 20

autosomal dominant

Question 21

List 3 autosomal dominant diseases

Answer 21

• osteogenesis imperfecta
• achondroplasia
• familial hypercholesterolemia

Question 22

List 3 autosomal recessive diseases

Answer 22

• PKU
• albinism
• cystic fibrosis
• sickle cell

Question 23

List 3 x-linked dominant

Answer 23

• amelogenesis imperfecta
• fragile X syndrome
• hypophosphatemia (Rickets)
• alports syndrome

Question 24

List 3 x-linked recessive

Answer 24

• hemophilia A
• duchennes muscular dystrophy
• red-green colourblindness