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Kaplan Qbank USMLE



Author3 Posts
  #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

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From Practice to Perfection 99

  #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.

  #3

@ keepgoing
hey
thanks for u postsmiling face

Edited by medneo14 on 11/01/07 - 01:09 AM

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From Practice to Perfection 99







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