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* genetic Q
 #572217  
  raheem - 03/06/11 15:08
 
 
Severe anaemia at birth is a feature of what?


a) Alpha-thalassaemia

b) Beta-thalassaemia

c) Hereditary persistence of fetal haemoglobin

d) Sickle cell disease
Question 3
The mutation in sickle-cell disease consists of:


a) a deletion.

b) a duplication.

c) an insertion.

d) a point mutation.
Question 4
The common mutation in α-thalassaemia consists of:


a) a deletion.

b) a duplication.

c) an insertion.

d) a point mutation.
Question 5
The mutational mechanism in δβ-thalassaemia consists of:


a) a deletion.

b) a duplication.

c) an insertion.

d) a point mutation.
 
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* Re:genetic Q
#2346380
  dr_no3man - 03/06/11 16:17
 
  a
d
a
c
 
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* Re:genetic Q
#2346393
  antonella - 03/06/11 16:34
 
  Severe anemia at birth is Alfa-Thalassemia with HbH increased,MCV decreased and Normal Iron
If anemia ?6 mo=Bthallasemia with HbF increased
 
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* Re:genetic Q
#2346397
  antonella - 03/06/11 16:37
 
  The sickle cell disease is a in the group of substititions single point mutation ,more specific =MISSENSE –new codon specify different amino acid  
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* Re:genetic Q
#2346404
  antonella - 03/06/11 16:56
 
 
Alfa thalassemia is LARGE SEGMENT DELETION in which unequal crossover has deleted one or more alfa globin genes from chromosome 16th.

 
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* Re:genetic Q
#2346486
  anonyme - 03/06/11 18:56
 
  A D A A  
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* Re:genetic Q
#2346533
  sarim - 03/06/11 20:48
 
  A
D
A
D -point mutation-- beta-thalassemia
 
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* Re:genetic Q
#2346744
  raheem - 03/07/11 02:11
 
 
Severe anaemia at birth is a feature of what?

Your Answer:

a) Alpha-thalassaemia

Feedback:

Beta chain synthesis does not begin until after birth so that disorders involving primary defects in β-globin chain synthesis do not present until later in infancy.
Page reference: 154-155
Question 3
The mutation in sickle-cell disease consists of:

Your Answer:

d) a point mutation.

Feedback:

The sickle-cell mutation consists of an A to T transversion resulting in substitution of valine for glutamic acid.
Page reference: 157
Question 4
The common mutation in α-thalassaemia consists of:

Your Answer:

a) a deletion.

Feedback:

The most common mutational mechanism is deletion of one or both contiguous α-globin genes.
Page reference: 159
Question 5
The mutational mechanism in δβ-thalassaemia consists of:

Your Answer:

a) a deletion.

Feedback:

This is caused by deletion of the contiguous δ- and β-globin genes.
Page reference: 162
 
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* Re:genetic Q
#2347057
  dr_no3man - 03/07/11 14:54
 
  i thought in 5 B thalassemia has a problem with alternative splicing so insertion would be making sense with this defect!  
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