Sunday, 13 December 2015

Basic Genetics Objective Type Questions And Answers

16- Lipoprotein lipase deficiency is associated with:
1) Abetalipoproteinaemia
2) Combined hyperlipidaemia
3) Familial combined hyperlipidaemia
4) Familial Hypercholesterolaemia
5) Marked Hypertriglyceridaemia
Lipoprotein lipase deficiency is autosomal recessive and associated with increased chylomicrons and marked hypertriglyceridaemia.

17- Concerning Neurofibromatosis Type 1 (NF1), which one of the following statements is true?
1) Bilateral acoustic neuromas are common
2) Clinical severity in individuals is similar in a given family
3) New mutations occur rarely
4) Pigmented spots on the iris are a characteristic feature
5) The diagnosis is likely if two café-au-lait patches are present

18- The following are features of pseudohypoparathyroidism:
1) Increased urinary phosphate and cAMP with PTH infusion
2) Low serum PTH
3) Low serum calcium and low serum phosphate
4) Low serum calcium and high serum phosphate
5) Shortened 2nd and 3rd metacarpals

19- Reverse transcriptase-PCR is used to ampify:
1) Antibodies
2) DNA
3) RNA
4) Protein
5) Plasmids

20 -Which of the following is a characteristic feature of familial hypercholesterolaemia?
1) Autosomal dominant inheritance
2) elevated chylomicrons
3) hypertriglyceridaemia
4) increased expression of LDL receptors
5) Palmar xanthomas

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