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 Cystic Fibrosis  




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Author14 Posts
  #1

In north america 70% of cases of CF are caused by what kind of mutation?

a)frameshift
b)misssense
c)silent
d)nonsense
e)translocation
f)RNA splicing




  #2

choice a) frame shift


  #3

to mjl

I have read a lot of discussion about this topic but no clear answer :lol: , and my own opinion is missense mutation


Do you have the correct answer ?

Thanks


  #4

a)frameshift
i think but not sure?


  #5

No , Im not totally sure, but if you search the archives there is a long thread on this from 15/3 /04


  #6

I believe the concensus was missense.


  #7

i think mjl is right

Mutation spectrum: 50% missense, 20% frameshift, 15% nonsense, 15% splicing, large deletions or other



i pick this on an website
http://www.ich.ucl.ac.uk/cmgs/cfgtp00.htm


  #8

I think we can beat this until its death 8)

In most case of cystic fibrosis 70% it is due to DF508, an in frame mutation.

Beside this, there are a lot of many other mutation, not only DF508, as nonsense, missense, frame shift etc. And among these Missense mutation is the most common.

It is my own opinion


  #9

In pure slang: "I feel you"
Did you see that long thread in the archives from 15/3/04 on C.F.?

Also in black and white Id say Sickle cell disease and or Diabetes mellitus and all their intricacies is worthy of being beaten to death also!
Good looking out! smiling face


  #10

Hi, I think the mutation involving phenylalanine at the DF508 position in Cystic fibrosis is a delition -

i.e. deletion of phenylalanine at the DF508 position of chromosome 7? i think!

and it must be a nonsense mutation because it produces a truncated protein. (im not sure about that)

But inframe and frame shift are usually for duchennes and beckers musculodystrophy!

What dyu guys think?


  #11

In cystic fibrosis there are alot of responsible mutations such as non sense, missense, inframe, frame shift etc each ethnic has a diffrent frequency of genetic mutation

As you say, the most common mutation DF 508. by definition it is a deletion of 3 bases :arrow: it is inframe mutation


Frame-shift is responsible for Duchenne MD :arrow: More severe

In-frame is responsible for Beckers MD :arrow: Less severe


  #12

Important info!


  #13

B-MISSSENSE,,,MUTATION WITH LOSS SINGLE AA,,,SO IN NONSENSE WILL ACCOMPANIED BY STOP CODONE SO WILL LOSS MANY AA,,SO IT DEPEND ON HOW MANY AA LOSS THIS MUTATION CAUSE
NOTE;IN BOTH MISSSENSE AND NONSENSE THERE IS SINGLE BASE PAIR MUTATION BUT DIFFER IN NO. OF AA LOST SO,,,,,,,,,,,,,,,,,,,,70% SINGLE AA LOST=MISSSENSE
SUMMERY,,,,FOCUSED ON NO. OF AA LOST TO DECIDE
DO NOT FOCUSED ON MUTATION SO YOU WILL NOT DECIDE
BEST REGARDS,,,,,,,,,,



  #14

AND TO BE SATISFIED WITH WHAT I HAVE SAID ,,,DELTA,,,BEANS NO. 3,,SO HERE WE LOST SINGLE AA WITH ITS THREE BASE PAIRES SUPPOSE TO BE ENCODE THIS AA,,,,,,,,,,,,,,,THANKS





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