41- Which of the following haematological disorders is inherited as an autosomal recessive condition?
1) Antithrombin III deficiency
2) Protein C deficiency
3) Glucose-6-phosphate dehydrogenase deficiency
4) Pyruvate kinase deficiency
5) Acute intermittent porphyria
Answers-4
42- A 20 year old female patient is refered with primary amenorrhoea.
Investigations reveal a 46 XY karyotype. Which of the following concerning the condition is true?
1) It is likely that her mother received stilboestrel in pregnancy
2) It is likely that her mother received Carbimazole for thyrotoxicosis during pregnancy
3) Low testosterone and oestradiol concentrations would be expected
4) The diagnosis is likely to be testicular feminisation syndrome
5) The diagnosis is Noonan's syndrome
Answers-4
43- Which ONE of the following is a recognised feature of achondroplasia?
1) Autosomal recessive inheritance
2) May be diagnosed radiologically at birth
3) Increased liability to pathological fractures
4) Shortened spine
5) Subfertility
Answers-2
44- Restriction enzymes:
1) Cut DNA
2) Join two pieces of DNA together
3) Synthesize DNA
4) Degrade DNA
5) Are involved in cell cycle arrest
Answers-1
Restriction enzymes cut DNA at sequences specific for each restriction enzyme, they are vital tools for molecular biology and molecular genetic research.
45- The following is true about Cystic Fibrosis:
1) Is an autosomal dominant condition.
2) Is due to mutation of CFTR gene on chromosome 17
3) Skin test may be positive for aspergillus
4) Median survival rate is 10 to 15 years.
5) Is a cause of mental retardation.
Answers-3
Cystic fibrosis is an autosomal recessive condition and is due to mutation of CFTR gene on chromosome 7. 20% develop bronchopulmonary aspergillosis. Median
survival rate is 25 to 35 years and is currently improving.
More Questions & Answers:-
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1) Antithrombin III deficiency
2) Protein C deficiency
3) Glucose-6-phosphate dehydrogenase deficiency
4) Pyruvate kinase deficiency
5) Acute intermittent porphyria
Answers-4
42- A 20 year old female patient is refered with primary amenorrhoea.
Investigations reveal a 46 XY karyotype. Which of the following concerning the condition is true?
1) It is likely that her mother received stilboestrel in pregnancy
2) It is likely that her mother received Carbimazole for thyrotoxicosis during pregnancy
3) Low testosterone and oestradiol concentrations would be expected
4) The diagnosis is likely to be testicular feminisation syndrome
5) The diagnosis is Noonan's syndrome
Answers-4
43- Which ONE of the following is a recognised feature of achondroplasia?
1) Autosomal recessive inheritance
2) May be diagnosed radiologically at birth
3) Increased liability to pathological fractures
4) Shortened spine
5) Subfertility
Answers-2
44- Restriction enzymes:
1) Cut DNA
2) Join two pieces of DNA together
3) Synthesize DNA
4) Degrade DNA
5) Are involved in cell cycle arrest
Answers-1
Restriction enzymes cut DNA at sequences specific for each restriction enzyme, they are vital tools for molecular biology and molecular genetic research.
45- The following is true about Cystic Fibrosis:
1) Is an autosomal dominant condition.
2) Is due to mutation of CFTR gene on chromosome 17
3) Skin test may be positive for aspergillus
4) Median survival rate is 10 to 15 years.
5) Is a cause of mental retardation.
Answers-3
Cystic fibrosis is an autosomal recessive condition and is due to mutation of CFTR gene on chromosome 7. 20% develop bronchopulmonary aspergillosis. Median
survival rate is 25 to 35 years and is currently improving.
More Questions & Answers:-
Page1 Page2 Page3 Page4 Page5 Page6 Page7 Page8 Page9
Page10
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