36- A 60-year-old Chinese man has been started on quinine for leg cramps by his General Practitioner. He presents, a week later, with 5 days of darkened urine and 2 days of increasing breathlessness, back pain and fatigue. Investigations show a haemoglobin of 7.0 g/dl and raised reticulocyte count. Which of the following best explain this drug reaction?
1) autoimmune haemolytic anaemia
2) glucose-6-phosphate dehydrogenase deficiency
3) hereditary spherocytosis
4) pyruvate kinase deficiency
5) sickle cell disease
Answers-2
37- Benign Essential Tremor:
1) Is present characteristically at rest
2) Occur with lesion in sub thalamus
3) Occur in liver disease
4) Alchohol improves the tremor
5) Is autosomal recessive in inheritance
Answers-4
There is no tremor at rest, but a rhythmic oscillation develops when the patient holds the arms outstretched. A positive family history is obtained in over half of
such patients and the pattern of inheritance in such families indicates an autosomal dominant trait. Alcohol suppresses essential tremor, but the mechanism
responsible is unknown
38- In which of the following is mental retardation an expected finding?
1) Alkaptonuria
2) Cystinuria
3) Glycogen storage disease
4) Lactose intolerance
5) Maple syrup urine disease
Answers-5
39- In X-linked recessive inheritance, which of the following is true?
1) The male to female ratio is 2:1.
2) Each son of a female carrier has a 1:4 risk of being affected.
3) Each daughter of a female carrier has a 1:4 risk of being a carrier.
4) Daughters of affected males will all be carriers.
5) The family history is often positive since new mutations are rare.
Answers-4
40- The level of cellular telomerase activity will affect:
1) The rate of cell growth
2) Cell death
3) The number of cell divisions a cell is capable of undergoing
4) Cell survival
5) RNA synthesis
Answers-3
The telomere is a DNA sequence at the end of each chromosome which becomes progressively shorter with each division the cell undergoes. When it is reduced to a
critical length the cell is not capable of dividing, the enzyme telomerase is able to lengthen the telomere thus preventing this occurring.
1) autoimmune haemolytic anaemia
2) glucose-6-phosphate dehydrogenase deficiency
3) hereditary spherocytosis
4) pyruvate kinase deficiency
5) sickle cell disease
Answers-2
37- Benign Essential Tremor:
1) Is present characteristically at rest
2) Occur with lesion in sub thalamus
3) Occur in liver disease
4) Alchohol improves the tremor
5) Is autosomal recessive in inheritance
Answers-4
There is no tremor at rest, but a rhythmic oscillation develops when the patient holds the arms outstretched. A positive family history is obtained in over half of
such patients and the pattern of inheritance in such families indicates an autosomal dominant trait. Alcohol suppresses essential tremor, but the mechanism
responsible is unknown
38- In which of the following is mental retardation an expected finding?
1) Alkaptonuria
2) Cystinuria
3) Glycogen storage disease
4) Lactose intolerance
5) Maple syrup urine disease
Answers-5
39- In X-linked recessive inheritance, which of the following is true?
1) The male to female ratio is 2:1.
2) Each son of a female carrier has a 1:4 risk of being affected.
3) Each daughter of a female carrier has a 1:4 risk of being a carrier.
4) Daughters of affected males will all be carriers.
5) The family history is often positive since new mutations are rare.
Answers-4
40- The level of cellular telomerase activity will affect:
1) The rate of cell growth
2) Cell death
3) The number of cell divisions a cell is capable of undergoing
4) Cell survival
5) RNA synthesis
Answers-3
The telomere is a DNA sequence at the end of each chromosome which becomes progressively shorter with each division the cell undergoes. When it is reduced to a
critical length the cell is not capable of dividing, the enzyme telomerase is able to lengthen the telomere thus preventing this occurring.
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