Monday, December 1, 2008

My Genotype

I can't remember if I already mentioned my genotype within an earlier post, but I decided to dedicate a post to this topic so it's easier to find. (I know I am always curious to learn the genotype of other CFers.)

My genotype is DF508/R117H.

For those who don't know a bunch about CF, there is some correlation between geneotype and the severity of the disease, and this is why we CFers are often curious about the genotypes of other CFers.

Quick genetics lesson - it takes two copies of the CF gene for a person to have CF. (People who only have one copy are carriers.) From what I've read online, it seems the "milder" gene is always the dominant one. This is why I have mild CF. R117H is associated with mild CF and pancreatic sufficiency. DF508 is the most common CF gene, and, usually, a person carrying two copies of this gene will have "classic" CF (i.e., they will have more lung complications and be pancreatic insufficient).

I feel very lucky to be a carrier of one of the "mild" genes!


Alicia said...

You're right-this is a great topic, and I'm always very curious about what people have as well. I guess a day will come when we'll be telling eachother names of modifier genes along with the mutated genes. My daughter, Samantha, is a double DF508. I know even "double delts" have a range, but I'm happy with you that you carry one of the "mild" genes.

Carolyn said...

Wow! My kids have the same gent type also! I am the carrier for the R117H. It is pretty interesting all the different genes that cause cf. I am amazed at how many there are!

Christy said...

I'm so glad I found your blog through I have no idea what genes I have. I had "mild" cf until I got a mycobacterium at age 28. I had my daughter at age 25. It was a great pregnancy!

Carolyn said...

opps I got our gene type wrong. My kids have R1162x and delta 508. I always mix up R117H and R1162X but at least I got the R right....LOL!

Marci said...

I have the same genotype as you-and I have 2 kids! Good luck to you-and feel free to email me if you want to!
Marci (34 w/CF).

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