Phenotypic variability

Question 1

Type 1 OI

Answer 1

Mild
Autosomal Dominant
COL1A1 gene

Question 2

Type 2 OI

Answer 2

Severe and usually lethal in perinatal period
Autosomal Dominant
COL1A1 and COL1A2 gene

Question 3

Type 3 OI

Answer 3

Progressive and deforming
Autosomal Dominant
COL1A1 and COL1A2

Question 4

Type 4 OI

Answer 4

Deforming but with normal sclerae most of the time
Autosomal Dominant
COL1A1 and COL1A2

Question 5

Type 5 OI

Answer 5

Deforming but with normal sclerae but mesh like
Autosomal Recessive
IFITM5

Question 6

Type 6 OI

Answer 6

Deforming but with normal sclerae but fish scales
Autosomal Recessive
SERPINF1

Question 7

Type 7 OI

Answer 7

Cartilage associated protein
Autosomal recessive
CRTAP

Question 8

Type 8 OI

Answer 8

Severe to lethal
Autosomal recessive
P3H1

Question 9

What is Multiple Endocrine Neoplasia type 1

Answer 9

Increase risking of adenomas in endocrine tissue
Mutation in tumour suppressor gene
Autosomal dominant but a second event must occur

Question 10

What is hereditary haemochromatosis

Answer 10

Autosomal recessive
Mutation in homeostatic iron regulator protein HFE
Only 10% clinically present
Women symptoms don’t develop until after menopause due to menstruration

Question 11

BRCA-1 and BRCA-2

Answer 11

Increased prostate cancer and breast cancer

Question 12

What gene is involved with congenital long-QT syndrome

Answer 12

KCNQ1 and KCNH2

Question 13

What affects your eye colour

Answer 13

HERC-2 and OCA-2

Question 14

What is the mutation is cystic fibrosis

Answer 14

DELF508

TGFB1 - encodes for transforming growth factor

Question 15

What gene is responsible for increasing your chances of developing Chronic Pseudomonas Aeruginose

Answer 15

FCGR2A

Question 16

What does Von Hippel-Lindau syndrome give you in terms of cancers

Answer 16

Retinal
Cerebellar
Spinal hemangioblastoma
Renal cell carcinoma
Pheochromocytoma

Question 17

What alters the phenotype of VHL

Answer 17

Variation in cyclin D1 CCND1

Retinal angiomas is significantly higher

Question 18

Becker muscular dystrophy

Answer 18

Mild with onset around 12 years
Ambulation happens later in life
No frame shift - dystrophin shorter but still have activity

Question 19

Duchenne muscular dystrophy

Answer 19

Dependancy at 10 years
Cardiac muscle failure
Frame shift deletion - no active dystrophin produced

Question 20

What does CAG code for

Answer 20

Glutamine

Question 21

What is a chain of glutamine called

Answer 21

Polyglutamine tract

Poly Q tract

Question 22

How does the CAG repeats happen

Answer 22

DNA loops out during replication

Question 23

What is the normal phenotype for Huntingtons

Answer 23

Fewer than 27