1717-1G>A

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cfsucks

Guest
Could only find a thread 6 years ago on this mutation- and very little online.
All I found is this site...
http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=588
Found once in an individual who is a compound heterozygote for the 1717-1G->A. This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA.

</blockquote>
Would this be considered a nonsense mutation?
 
C

cfsucks

Guest
Could only find a thread 6 years ago on this mutation- and very little online.
All I found is this site...
http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=588
Found once in an individual who is a compound heterozygote for the 1717-1G->A. This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA.

</blockquote>
Would this be considered a nonsense mutation?
 
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giantsfan91

Guest
"...father of the affected, carries one copy of the CF-mutation 1717 (this mutation is found in Italian and Jewish CF chromosomes). (my father) also has an unusual pattern of exon 10 amplification. This exon (a coding segment of the CF gene) includes the mutations delta F-508 and delta I-507. His pattern resembles that expected for a carrier of delta F-508, but when the DNA is mixed with normal DNA, instead of producing a heterozygous pattern, it does not change in its migration. This likely represents a sequence variant, though it is possible that his CF-gene contains two mutated segments- 1717 and exon 10. We believe the variant change is included in the same gene because (me), the affected proband has inherited the delta F-508 mutation from his mother and both the 1717 and the variant exon 10 from his father."

That's quoted directly from the letter my parents and CF doc received from The New York Hospital-Cornell Medical Center back in 1992 when I was tested for CF. I don't know if it'll answer any of your questions but I just recently read this letter for the first time and it's the only thing I have read about my other mutation. I also have delta f-508 in addition to 1717-1g>a.
 
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giantsfan91

Guest
"...father of the affected, carries one copy of the CF-mutation 1717 (this mutation is found in Italian and Jewish CF chromosomes). (my father) also has an unusual pattern of exon 10 amplification. This exon (a coding segment of the CF gene) includes the mutations delta F-508 and delta I-507. His pattern resembles that expected for a carrier of delta F-508, but when the DNA is mixed with normal DNA, instead of producing a heterozygous pattern, it does not change in its migration. This likely represents a sequence variant, though it is possible that his CF-gene contains two mutated segments- 1717 and exon 10. We believe the variant change is included in the same gene because (me), the affected proband has inherited the delta F-508 mutation from his mother and both the 1717 and the variant exon 10 from his father."

That's quoted directly from the letter my parents and CF doc received from The New York Hospital-Cornell Medical Center back in 1992 when I was tested for CF. I don't know if it'll answer any of your questions but I just recently read this letter for the first time and it's the only thing I have read about my other mutation. I also have delta f-508 in addition to 1717-1g>a.
 
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cfsucks

Guest
very interesting.so as i understand- the second mutation is comprised of two mutations? does that mean that we have 3 mutations?
i also have df508 as well. do you mind me asking how your health is? im 23.
 
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cfsucks

Guest
very interesting.so as i understand- the second mutation is comprised of two mutations? does that mean that we have 3 mutations?
i also have df508 as well. do you mind me asking how your health is? im 23.
 
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giantsfan91

Guest
I don't really have any GI issues other than the occasional stomach ache. I take 1-2 enzymes with each meal but my fev1 baseline is around 50%. It was really good up until I graduated high school but something is dragging my numbers down lately. I gotta say if I didn't have any lung issues, I'd be pretty normal. I'm about 5'7" 115 lbs and I don't struggle to maintain my weight, I kind of just eat whatever I want when I want so if I really tried to gain more I could probably do it. I'm 20 now.
 
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giantsfan91

Guest
I don't really have any GI issues other than the occasional stomach ache. I take 1-2 enzymes with each meal but my fev1 baseline is around 50%. It was really good up until I graduated high school but something is dragging my numbers down lately. I gotta say if I didn't have any lung issues, I'd be pretty normal. I'm about 5'7" 115 lbs and I don't struggle to maintain my weight, I kind of just eat whatever I want when I want so if I really tried to gain more I could probably do it. I'm 20 now.
 

justdance

New member
Sorry to bust in on this convo but i also have the 1717-1g-aa and DF508 combination. I 'm always interested to hear what other people's clinical presentation is like. I had pretty much no lung symptoms until about aged 16-17. Original diagnosis was at 6 weeks old due to failure to thrive. Once I got started on enzymes it was plain sailing. In college a period of stupidity left me sick but I recovered well, am 27 now and working. Sports definitely the key to keeping me well. I can't afford to let up on exercise.
 

justdance

New member
Sorry to bust in on this convo but i also have the 1717-1g-aa and DF508 combination. I 'm always interested to hear what other people's clinical presentation is like. I had pretty much no lung symptoms until about aged 16-17. Original diagnosis was at 6 weeks old due to failure to thrive. Once I got started on enzymes it was plain sailing. In college a period of stupidity left me sick but I recovered well, am 27 now and working. Sports definitely the key to keeping me well. I can't afford to let up on exercise.
 
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