MCG - genetic basis of disease

Question 1

131) What are the four types of genetic diseases?
a) Autosomal recessive, Autosomal dominant, X-linked and Mitochondrial
b) Autosomal recessive, Autosomal dominant, Chromosomal and Mitochondrial
c) Mendelian disease, Single gene disease, Chromosomal, and Mitochondrial
d) Mendelian disease, Complex disease, Chromosomal, and Mitochondrial
e) Multifactorial disease, Complex disease, X-linked and Mitochondrial

Answer 1

d

Question 2

133) Which one of those is NOT a consequence of cystic fibrosis?
a) Diabetes
b) Osteoporosis
c) Arthritis
d) Kidney stone formation
e) Asthma

Answer 2

d

Question 3

135) Which drug for cystic fibrosis benefits patients who have either one or two copies of F508 deletion?
a) Ivacaftor-tezacaftor
b) Ivacaftor-lumacaftor-elexacaftor
c) Ivacaftor-tezacaftor-elexacaftor
d) Ivacaftor
e) Ivacaftor-lumacaftor

Answer 3

c

Question 4

137) When the repeat size of the short tandem CAG is 37, what type of Huntington’s onset do we see?
a) Incomplete penetrance
b) Individual is unaffected
c) Juvenile onset of Huntington’s
d) Adult onset of Huntington’s
e) Partial penetrance

Answer 4

a

Question 5

138) Which below is not a characteristic of a complex disease?
a) Polygenic
b) Rare
c) Variable penetrance
d) Due to minor gene variants
e) Involves gene-environment interactions.

Answer 5

b

complex diseases are common

Question 6

141) What is the name of the NHS project, completed in 2018, which set out to sequence genomes from patients affected by a rare disease or cancer?
a) 1 million genomes project
b) 100,000 genomes project
c) 10,000 genomes project
d) 1,000 genomes project
e) 10 million genomes project

Answer 6

b

Question 7

144) In Fragile X syndrome, what is the trinucleotide that is abnormally repeated over 200 times in FMR1 gene?
a) CCG
b) ATT
c) CGG
d) CTA
e) CAT

Answer 7

c

Question 8

147) A 36-year-old male patient has been admitted to A&E with difficulty breathing and severe wheezing. Subsequent chest X-ray confirms he has a chest infection. The doctors initially suspect an acute attack of asthma worsened by the chest infection but the patient says he was diagnosed with cystic fibrosis when he was a child. Cystic fibrosis is a disease in which category of genetically inherited diseases?
a) Chromosomal disease
b) Multifactorial disease
c) Single gene disease
d) Mitochondrial disease
e) Complex disease

Answer 8

c