New-- Need help understanding terms!

[stacemarie]

Hi, I was wondering if anyone could explain any of this to me. For the background, two of my children were found to be CF carriers after their newborn screening. My husband and I are considering having another child and decided that we should be tested to find out if we were both carriers. I just received the results from my test today and have no idea what they mean. I've tried googling but still having a hard time understanding. I guess our next step is to have my hubby tested as well.

This is what they told me today (if I wrote it down right!) I am a carrier for the f508del gene but also have 5T homozygote. Can anyone explain either of these to me in simple terms?

Thanks!

 

[Aboveallislove]

Dear Stacy,
so you have two copies of a cf gene you got one from each of your parents. Homozygous means that each copy of your cf gene has a 5t variant. This provides a great explanation. http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF
additionally, on one gene you got from either your mom or your dad you have a cf mutation df508 which is the most common mutation. That makes you a carrier. Whether any future children have cf will depend on whether your husband is also a carrier. As the article notes though any sons could lack a vas deferens, but the way I read that is that would only happen if your husband is a carrier. But if you have any brothers and they and their wife are suffering from infertility, you might want to share that info with them since your combo of df508 and 5t for a male could cause that problem. Hope this helps.

 

[stacemarie]

Thank you so much for your explanation. Is having TWO 5t variants as well as the df508 something I need to be concerned about for my health? I'm having a hard time finding info on having two 5T variants, if that is something of more concern than only one variant, especially when combined with the df508 mutation.

 

[Aboveallislove]

I was wondering the same thing when reading, but given that the 5t isn't considered a concern, I don't think having two Ariana's even with dd508 would matter, unless you are a male and then it could mean no as deferens. I have no idea if having on the same allele I.e. a son of yours ets one gene with the 5t and dd508, as opposed to one gene from you with one and another from dad with one, would mean he has no vas deferens. But from that article it seems like 5t is not a concern for you.