Mutations

Question 1

Phenylketonuria

Answer 1

PAH gene, Arg408Trp

Question 2

Silent Carrier a-Thalassemia

Answer 2

HBA1/HBA2, 1/4 mutation

Question 3

a-Thalassemia

Answer 3

HBA1/HBA2, 2/4 mutation

Question 4

Haemoglobin H

Answer 4

HBA1/2, 3/4 mutation

Question 5

Hb Barts

Answer 5

HBA1/2, 4/4 mutation

Question 6

b-Thalassemia minor

Answer 6

HBB, 1/2 mutation

Question 7

b-Thalassemia major

Answer 7

HBB, 2/2 mutation

Question 8

Sick Cell Anaemia

Answer 8

HBB, p.Glu6Val, single amino acid change

Question 9

Haemochromatosis

Answer 9

HFE, p.Cys282Tyr, p.His63Asp, missense mutation

Question 10

Cystic Fibrosis

Answer 10

CFTR gene, deltaF508 (Phe508del)

Question 11

Achondroplasia

Answer 11

FGFR3 gene, p.Gly380Arg, dominant

Question 12

Hypochondroplasia

Answer 12

FGFR3 gene, p.Asn540Lys

Question 13

Huntington’s Disease

Answer 13

HTT, expansion of CAG repeats

Question 14

Myotonic Dystrophy

Answer 14

DMP gene, CTG repeats exceeding 37

Question 15

Retinoblastoma

Answer 15

RBI gene

Question 16

Neurofibromatosis Type 1

Answer 16

NF1 gene, missense, nonsense, insertion, deletions

Question 17

Neurofibromatosis Type 2

Answer 17

NF2 gene, missense, nonsense, frameshift

Question 18

Yellow/Orange Colour Deficiency

Answer 18

OPNILW gene

Question 19

Yellow/Green Colour Deficiency

Answer 19

OPNIMW gene

Question 20

Hypophasataemic Rickets

Answer 20

PHEX gene, increases FGF28

Question 21

Duchene Muscular Dystrophy

Answer 21

DMD gene

Question 22

Becker Muscular Dystrophy

Answer 22

DMD gene

Question 23

Haemophilia A

Answer 23

F8 gene

Question 24

Haemophilia B

Answer 24

F9 gene

Question 25

Kennedy Disease

Answer 25

AR gene, expansion of CAG repeats

Question 26

Legh Disease

Answer 26

MT-ATP6 gene