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Old 04-25-2012
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DNA Types of Mutations and Examples for you CK Exam

what are different types of mutation and what mutation in specific disorder??

Delete mutation in cystic fibrosis....

please add other mutation and associate disease ...thanks
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Old 04-26-2012
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point mutation in sickle cell disease ..valine for glutamic acid
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Old 04-27-2012
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5p deletion in Cru di chat
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Old 04-27-2012
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Point mutation in Neurofibromatosis and sickle cell ..

Nonsense mutation Duchenne muscular dystrophy
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Old 04-27-2012
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Splicing mutation in B thalassemia
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Old 04-27-2012
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Originally Posted by usmledee View Post
Splicing mutation in B thalassemia
and deletion in A thal
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Old 04-27-2012
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Splicing mutation in B thalassemia
and gene deletion causes A thal
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Old 04-27-2012
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C-MYC amplification in BRCA1 related Breast CA
HER2 amplification in BRCA2 related Breast CA
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Old 04-27-2012
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Expanding Trinucleotide Repeats in:
  • Fragile X
  • Huntington's Disease (CAG)
  • Myotonic Dystrophy (CGG)
  • Frederick's Ataxia (GAA)
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Old 04-27-2012
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Robertsonian Translocation in Trisomy 21
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Old 04-27-2012
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Genomic Imprinting (with deletion of either maternal or paternal chr)
  • Angelman syndrome (loss of maternal ch 15)
  • Prader Willi Syndrome (loss of paternal ch 15)
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Old 04-27-2012
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C-MYC amplification in BRCA1 related Breast CA
cmyc also in burkits.
wow...cmyc in burkits and brca...lolz
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Old 04-27-2012
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Frame shift mut's
Tay Sacs
Familial Hypercholesterolemia
Duchene Muscular Dystrophy
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Old 04-27-2012
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Default Do you want my Mutation Table ..do yah?

I am forming a table with all the mutations together that we've posted here.
So here's the deal... the people that post the most on this thread ...when I am done forming the table ..I will PM you a copy of it (don't know if that's possible thru PM..but I'll figure it out at the time).... so keep posting mutations so we all have a nice table to look at for review . I will keep following this thread....
NO POSTINGS...
NO TABLE
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Old 04-28-2012
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Quote:
Originally Posted by usmledee View Post
I am forming a table with all the mutations together that we've posted here.
So here's the deal... the people that post the most on this thread ...when I am done forming the table ..I will PM you a copy of it (don't know if that's possible thru PM..but I'll figure it out at the time).... so keep posting mutations so we all have a nice table to look at for review . I will keep following this thread....
NO POSTINGS...
NO TABLE
i dont like the idea....
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  #16  
Old 04-28-2012
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Quote:
Originally Posted by usmledee View Post
I am forming a table with all the mutations together that we've posted here.
So here's the deal... the people that post the most on this thread ...when I am done forming the table ..I will PM you a copy of it (don't know if that's possible thru PM..but I'll figure it out at the time).... so keep posting mutations so we all have a nice table to look at for review . I will keep following this thread....
NO POSTINGS...
NO TABLE
I started the thread so everyone can benefit from it and share the information here..since topic is so dry and we forget which mutation is where.....after seeing related q on uw and nbme realized topic is important ...Making table is good idea but kindly share it with everyone here instead of PM. so everyone benefited since some may be silent readers and there are only few important mutations so everyone may not post it...thanks
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Old 04-28-2012
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i dont like the idea....
LOL... And why is that? I was planning to send it to you BTW... But that's fine if you're not interested. I was trying to do something nice for everyone posting ...and this is a team effort thing....guess you're not into teamwork.hmmm.
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  #18  
Old 04-28-2012
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Quote:
Originally Posted by confident View Post
I started the thread so everyone can benefit from it and share the information here..since topic is so dry and we forget which mutation is where.....after seeing related q on uw and nbme realized topic is important ...Making table is good idea but kindly share it with everyone here instead of PM. so everyone benefited since some may be silent readers and there are only few important mutations so everyone may not post it...thanks
Well...here is the thing...we all take the time from our studies to post something useful to all... And many will view and even when there IS something to share and little has been posted on the thread with plenty of room for them to share SOMETHING...they still don't because with them it is all about take and no give. I purposely stated that I would share only with those posting because I am trying to send out a message to others to please share and participate...it will only make the forum more interesting and better...it is when people stop doing this, that a forum startsego die out...like another forum that you may be familiar with. I have absolutely nothing against sharing. In fact I have released many things I have made to random study partners for to gain at all. I could have easily just gather the info and made a table for myself and not even mention it...but my intentions were to help... I am very sorry if others see it otherwise.

Let's just continue as is and I will drop this idea since it is offending some and I absolutely do not want to offend anyone, not during a stressful time like this, nor any other time. Thanks for your honest opinion.
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Old 04-28-2012
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LOL... And why is that? I was planning to send it to you BTW... But that's fine if you're not interested. I was trying to do something nice for everyone posting ...and this is a team effort thing....guess you're not into teamwork.hmmm.
i dont like because i want everyone to get those tables not just few ones who contribute. no personal issues.
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Old 04-28-2012
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Expanding Trinucleotide Repeats in:
  • Fragile X
  • Huntington's Disease (CAG)
  • Myotonic Dystrophy (CGG)
  • Frederick's Ataxia (GAA)
correction sir,

fraGile x ---- cGG
huntingtons ----- cag
myoTonic dystrophy ----- cTg
frederick's Ataxia ---- gAA
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Old 04-28-2012
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correction sir,

fraGile x ---- cGG
huntingtons ----- cag
myoTonic dystrophy ----- cTg
frederick's Ataxia ---- gAA
Thanks for correction
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Old 04-29-2012
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Hemochromatosis: Autosomal recessive mutation of HFE encoding a protein that interact with beta2microglobulin.
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Old 04-29-2012
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Hemochromatosis: Autosomal recessive mutation of HFE encoding a protein that interact with beta2microglobulin.
goodpasture type4 collagen some subunit defect
alport type 4 collagen defect

whats asked?
huntington is AD
HOCM is AD

where is usmledee? i guess i havent hurted him....
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Old 04-29-2012
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goodpasture type4 collagen some subunit defect
alport type 4 collagen defect

whats asked?
huntington is AD
HOCM is AD

where is usmledee? i guess i havent hurted him....
Busy working on my table
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  #25  
Old 04-30-2012
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goodpasture type4 collagen some subunit defect
alport type 4 collagen defect

whats asked?
huntington is AD
HOCM is AD

where is usmledee? i guess i havent hurted him....
I dont think usmledee is hurt but have taken opinion in good way...might be busy with tables which he will share with us
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  #26  
Old 04-30-2012
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goodpasture type4 collagen some subunit defect
alport type 4 collagen defect
there are antibodies to type 4 in goodpasture. there is no collagen defect. gosh! my mind...
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Old 05-06-2012
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Gaucher disease-deletion
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Old 05-06-2012
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t(14, 18) - follicular lymphoma
t(11, 14) - mantle cell lymphoma
t(8, 14) - burkitts lymphoma
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