ALS 7

Question 1

MEN1 Genes

Answer 1

leads to adenoma
autosomal dominant
tumour suppressor genes

Question 2

Heriditary haemochromatosis

Answer 2

autosomal recessive
HFE protein
Absorption of iron

Question 3

cystic fibrosis modifiers

Answer 3

delf508
TGFB gene-transforming growth factors beta 1 cause lugn disease
Immunoglobulin Fc gamma receptor II (FCGR2A)

Question 4

VHL modifiers

Answer 4

cyclin D1
dominantly inherited cancer
Higher chance in D alleles

Question 5

Muscular dystrophy

Answer 5

deletion of dystrophin genes
Duchenne-severe disease early onset due to frame shift results in inactive protein
Becker- mild disease teenage onset, no frame shift results in active protein with shorter chain

Question 6

Huntington’s disease

Answer 6

Expansion of CAG region- codon for Glutamine

Chain of Glutamine- polyglutamine tract- poly Q tract (glumatine)