Guest guest Posted March 8, 2004 Report Share Posted March 8, 2004 In a message dated 3/8/2004 10:21:07 AM Central Standard Time, bcweston3@... writes: 1717-1G->A my girls carry 1717-1G-7A si this the same mutation? And are you saying that the medication will work on this mutation? Deb A Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2004 Report Share Posted March 8, 2004 Could anyone explain to me what these are? Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2004 Report Share Posted March 8, 2004 Joe, Read the following article. It explains a lot. http://www.colorado.edu/outreach/BSI/pdfs/lecturenotes.pdf > Could anyone explain to me what these are? > > Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2004 Report Share Posted March 8, 2004 One thing that confuses me. Stop mutations are often directly treated as synomous with Class I function mutations. My unborn daughter has the 1717-1G->A mutation which is a splice junction defect but still falls into the Class I grouping. For some reason, they just lump Class I as a group when mentioning using Gentamycin to create a " pass through " effect for stop mutations. Does anyone know, micro-biologically speaking, a reason why Gentamycin would not work for other Class I mutations like frameshift and splice junction? A good site for more technical explanations. http://www.hosppract.com/genetics/9706gen.htm > > Could anyone explain to me what these are? > > > > Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2004 Report Share Posted March 9, 2004 In a message dated 3/8/2004 2:29:05 PM Central Standard Time, bcweston3@... write Well we carry that mutation and the common mutation the Delta F508 and it wasn't our CF clinic I was fighting with about the Ceftin it was our Pediatrician doctor we were fighting with and yes they do SUCK!! I have had many battles with them but thank god I don't deal with them anymore then we have too. You are the first person I have heard of too that carry the same gene as my girls. Where do you live again?? Hey maybe we are related LOL!! Deb A Woo Hoo! Finally found someone with our mutations. First off, I have read some of your messages and I think your doctor SUCKS! I recommend trying to find another CF center. About our mutations, I think they are the same, the 1G->A is the splice mutation component of the description and 1717 is the location of the mutation. I do not think this testing applies, would like to know for sure, because I have seen other articles about using Gentamycin as a passthrough mechanism for other diseases and they treated splice mutations and stop mutations as two different entities. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2004 Report Share Posted March 9, 2004 In a message dated 3/9/2004 10:10:35 AM Central Standard Time, bcweston3@... writes: Brad, Blythe, Birgess (no CF), and Baby on the way We just found out that I carry the 1717-1G-7A and my husband carries the Delta F508. I got it from my mother who got it from her mother. I found out that my Grandmothers sister had a daughter that had a son with CF that died at 23 from complication from a lung transplant. We still have not found CF on my husband side. I am Irish and German and my husband is mostly German I think he might have some Irish in him to but not sure I will have to ask him about that. I do know that Attig is very German. those name are not familiar on my side but I will have to go through my hubbies family history book and see if there are any of those names in his history. My grandmothers last name was Yeggy and my Great Grandparents name was Wadle. Our daughters are doing pretty well they are 11 w/cf, 10 wo/cf, and 6 w/cf. My oldest fights with polyps a lot and has pseudomonas in her nose and we can't seem to get rid of it so we are constantly doing treatment to prevent pseudomonas from getting into her lungs. My youngest hasn't been on treatment since the being of the fall. We have been trying the glutathione so I don't know if that is why she has had such a good winter. But it is the only thing we have done differently. My oldest just went into clinic yesterday to see if the pseudomonas is still there so I will let you know how that goes when we fight out. How far along is your wife? And how did you find out your new baby has CF all ready? My oldest was 6 when she was diagnosed and my youngest was 1. Deb A Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2004 Report Share Posted March 9, 2004 Thanks for the clarification. That is what I thought. If you look at the Hopkins mutation database you can quickly pick up the stop mutations usually have 0 pancreatic sufficiency whereas, other class 1 mutations like 551D and 1717-1G->A have similar pancreatic sufficiency to F508D. http://www.hopkinsmedicine.org/cfgenotyping/database.htm > > In a message dated 3/8/2004 10:21:07 AM Central Standard Time, > > bcweston3@y... writes: > > 1717-1G->A > > my girls carry 1717-1G-7A si this the same mutation? And are you > saying that > > the medication will work on this mutation? Deb A > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 9, 2004 Report Share Posted March 9, 2004 Same here. My wife has the Delta F508 and I have that 1717 mutation. We live in Dallas. I don't know whether I got this mutation from my mother or father but both families have been in America for a LONG time (Scotch-Irish and English decent came over in 1600s). Maybe these last names are familiar to you, Hallock, Pollock, Weston, Crawford, or Boddy. Like I said before, we are waiting on our unborn daughter who has CF. So we really don't fully know what to expect. How old are your daughters and how are they doing? Thanks, Brad, Blythe, Birgess (no CF), and Baby on the way > In a message dated 3/8/2004 2:29:05 PM Central Standard Time, > bcweston3@y... write > > Well we carry that mutation and the common mutation the Delta F508 and it > wasn't our CF clinic I was fighting with about the Ceftin it was our Pediatrician > doctor we were fighting with and yes they do SUCK!! I have had many battles > with them but thank god I don't deal with them anymore then we have too. You > are the first person I have heard of too that carry the same gene as my girls. > Where do you live again?? Hey maybe we are related LOL!! Deb A > > > > > Woo Hoo! Finally found someone with our mutations. First off, I have > read some of your messages and I think your doctor SUCKS! I > recommend trying to find another CF center. > > About our mutations, I think they are the same, the 1G->A is the > splice mutation component of the description and 1717 is the location > of the mutation. > > I do not think this testing applies, would like to know for sure, > because I have seen other articles about using Gentamycin as a > passthrough mechanism for other diseases and they treated splice > mutations and stop mutations as two different entities. > > > Quote Link to comment Share on other sites More sharing options...
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