medneo14 Forum Newbie

Topics: 1 Posts: 2
| | 11/01/07 - 12:48 AM  
 
   
 
|   #1 |
Hi, I got stuck with this MCQ in Kaplan Bichem Section one chaper 4 Q. 8. Parahemophilia is an autosomal recessive bleeding disorder characterized by a reduced plasma concentration of the factor V blood coagulation protein. Defieciency arises from a 12 base pair deletion in the factor V gene that impairs the secretion of the factor V hepatocytes and results in an abnormal accumulation of immunoreactive factor V antigen in the cytoplasm. In which region of the factor V gene would this mutation most likely be located A. 5' untranslated region B. First Exon C. Middle intron D. Last exon E. 3' untranslated region
___________________ From Practice to Perfection 99
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| keepgoing Forum Guru
Topics: 63 Posts: 1,676
| | 11/01/07 - 12:53 AM  
 
   
 
|   #2 |
no secretion + accumulation in cytoplasm-->Endoplasic reticul not recieving translated mRNA signal sequence -->why?-->because hydrophobic signal is not there -->which wud be at very 1st exon's 5' NH2 terminal.so mutaion of exon 1.
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| medneo14 Forum Newbie

Topics: 1 Posts: 2
| | 11/01/07 - 12:58 AM  
 
   
 
|   #3 |
@ keepgoing hey thanks for u post
Edited by medneo14 on 11/01/07 - 01:09 AM
___________________ From Practice to Perfection 99
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