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Question about mutations

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blackride

New member
My wife and I are having a baby and we just found out that both of us are carriers for the gene CF.Her mutation:3849+10Kb C>tMy mutation:W1282XMy question is does it matter what mutation they have or is it still a 25% chance that the baby will have CF? Basically do the mutations "mix"? Also is one mutation milder than the other? Any info would be appreciated!We are seeing a genetics counselor Monday but I was hoping to get some more infor before that.Thanks Chris
 
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anonymous

New member
The mutation does not effect your chances of passing it on, there is still a 25% chance. I do not know anything about your mutations because I have a double f508 and really know nothing about the others. I am going to try to find a website I know of that talks about different mutations and then I will post again when I have more info...
 
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anonymous

New member
Chris, There is a lot of info on mutations on http://www.genet.sickkids.on.ca/cftr/ This site is maintained by the researcher that discovered the gene. Hopefully this helps you. It is a Canadian site.Heather
 
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anonymous

New member
Chris,I need to talk to you!!! Can you give me an email address to email you at?I know some interesting things about those mutations.ThanksBrendan
 
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anonymous

New member
Chris,Congratulations first on your new baby!! I'm not familiar with those mutations, however, one of my twins inherited delta F508 from their Dad and S1235R from me and the other twin only inherited delta F508.
 
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anonymous

New member
Hi Chris,Yes you still have a 25% chance of the baby having CF. I have one mutation of 3849 +10kb c>t and it is a mild mutation. I am 43 years old and I'm pretty healthy still. I have been able to have 2 children of my own w/o CF. This mutation is a class V mutation meaning it has reduced synthesis of the protein. This site talks about the different class of CF: http://www.hosppract.com/issues/2001/01/moss.htmGood luck to you Chris.Tammy 43wcf
 
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