Genetics

Question 1

HLAB27

Answer 1

Ankylosing Spondylarthritides

Question 2

HLADR4

Answer 2

Rheumatoid Arthritis (Also DR1)
T1DM

Question 3

Chromosome 7

Answer 3

Cystic Fibrosis

-CFTR Gene

Question 4

Chromosome 6

Answer 4

HLA’s (MHCs)

Question 5

Chromosome 22

Answer 5

BCR gene
-Associated with BCR-ABL (Philadelphia. Chromosome Gene)

Implicated 22q11.2 deletion syndrome.

Question 6

Chromosome 9

Answer 6

ABL1 gene

-Associated with BCR-ABL (Philadelphia Chromosome Gene)

Question 7

Inheritance:

Von Willebrand Disease

Answer 7

AD

Question 8

Inheritance:

Alpha-1-Antitrypsin Deficiency

Answer 8

AR

Question 9

Inheritance:

Wilson’s Disease

Answer 9

AR

Question 10

Inheritance:

Hemochromatosis

Answer 10

AR

Question 11

Inheritance:

Haemophilia

Answer 11

XL-Recessive

Question 12

Inheritance:

ß-Thalassaemia

Answer 12

AR

Question 13

Inheritance:

Sickle-Cell

Answer 13

AR

Question 14

Inheritance:

G6PD deficiency

Answer 14

XL-Recessive

Question 15

Inheritance:

Pyruvate Kinase Deficiency

Answer 15

AR

Question 16

Inheritance:

Gilbert’s Syndrome

Answer 16

AR

Question 17

Inheritance:

Hypertrophic Cardiomyopathy

Answer 17

AD + 50% new.

Question 18

IDH1

Answer 18

Isocitrate Dehydrogenase 1

-Mutation in lots of brain cancers, particularly GBM and Oligodendroglioma.

Question 19

HLADR3

Answer 19

Sjogren’s
Primary Billary Sclerosis
Myasthenia Gravis

Question 20

MEN1, MEN2

Answer 20

(Multiple Endocrine Neoplasia 1 and 2)

• Increase incidence of carcinoid tumours
• MEN2: Medullary Thyroid

Question 21

VHL

Answer 21

Mutation in VHL

-Results in tumour suppressor gene not produced

Question 22

Inheritance:

Von Hippel Lindau disease

Answer 22

AD

Question 23

Inheritance:

Duchenne muscular dystrophy

Answer 23

XL-recessive

Question 24

Inheritance:

Familial Adenomatous Polyposis (FAP)

Answer 24

AD

Question 25

Inheritance:

Ehler-Danlos syndrome

Answer 25

AD

Question 26

45X

Answer 26

Turner syndrome

Question 27

47XXY

Answer 27

Klinefelter’s syndrome

Question 28

Chromosome trisomy 13

Answer 28

Patau syndrome

Question 29

HLADR1

Answer 29

Rheumatoid Arthritis (Also DR4)

Question 30

HLADR2

Answer 30

SLE

Question 31

Abscence of paternally active genes on chromosome 15

Answer 31

Prader Willi syndrome

Question 32

Mutation on the maternal copy of

chromosome 15

Answer 32

Angelman syndrome

Question 33

Inheritance pattern: Osteogenesis imperfecta

Answer 33

AD

Question 34

Trisomy 18

Answer 34

Edward’s syndrome

Question 35

HLA DQ2

Answer 35

Coeliac disease

Question 36

HLA DQ8

Answer 36

Coeliac disease