Sunday, 13 December 2015

Genetics Multiple Choice Questions And Answers

6- A 35 year old male presents with oral and genital mucocutaneous ulcerations associated with polyarthritis affecting the lower limbs. He is currently on warfarin for an recent episode of pulmonary embolism.
Which of the genetic association is most commonly associated with his condition:
1) HLA A3
2) HLA B5
3) HLA B27
4) HLA DR3
5) HLA DR2

7- A 62 year old man has experienced substernal chest pain upon exertion with increasing frequency over the past 1 year. An electrocardiogram shows T wave inversion in the anterolateral leads at rest. He has a total serum cholesterol of 7.0 mmol/l. On angiography, he has an 85% narrowing of the left anterior descending artery.
Which of the following events is most likely to occur in this patient?
1) A systemic artery embolus from thrombosis in a peripheral vein.
2) A systemic artery embolus from a left atrial mural thrombus.
3) Pulmonary embolism from a left ventricular mural thrombus
4) A systemic artery embolus from a left ventricular mural thrombus.
5) Pulmonary embolism from thrombosis in a peripheral vein.

8- With respect to lipoprotein transport and metabolism in the body, the following statements are correct EXCEPT:
1) Chylomicrons are synthesized in the liver.
2) HDL is assembled in the extracellular space.
3) Arterial walls contain cells with LDL receptors.
4) VLDL transformation to LDL occurs in adipose tissue.
5) Cholesterol is required for the formation of red blood cell membranes.
Chylomicrons are formed in the gut from exogenous triacylglycerols and cholesterol. They are released into the lymph and thereby enter the blood.They are not formed in the liver.

9- Which of the following is a feature of hereditary haemorrhagic telangiectasia?
1) a good response to oestrogen therapy
2) cerebral arteriovenous malformations
3) GI haemorrhage as the usual presenting feature
4) telangiectasia of the mucous membranes, but not the skin
5) tendency of lesions to become less obvious with age
In hereditary haemorrhagic telangiectasia there may also be pulmonary AV malformations.Epistaxis, not GI haemorrhage, is the usual presenting feature.
Lesions become more obvious with age and affect mucuous membranes as well as skin. Oestrogen therapy is sometimes advocated but the effect, if any, is small.

10- Genetic anticipation occurs characteristically in all the conditions except
1) myotonia dystrophica
2) spinocerebellar ataxia type 1
3) Marfan's syndrome
4) Huntingdon's disease
5) Fragile X syndrome
Anticipation means increased severity/earlier age of onset of disease with successive generations. Other conditions with anticipation include spinocerebellar
ataxia type 1 and dentatorubral pallidoluysian atrophy.

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