hello. iam just curious to know if anybody knows anything about, or is a carrier of this gene. iam a carrier of it (e60x). my daughter has cf. we found this out a year ago when she was 3. ive heard that some genes can be worse than others. is this true? my fiancee's gene is g551d which our doctor told us was common for our area. this e60x on the other hand was hard for them to find and isnt as common. anyone with any info please?
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e60x ?
- Thread starter anonymous
- Start date
ClashPunk82
New member
I am not sure about how worse this gene is or how better it may be but I do know that I have two exact copies of that mutation. My brother has the same. My mom always said she married my dad for a reason! <img src="i/expressions/face-icon-small-happy.gif" border="0">
The most common mutation is the delta 508 mutation. Like 75% of CF-ers have a copy of that mutation. I have that one and an unkown, it has yet to be mapped. They have postulated the unkwon mutation is what offsets the bad effects that other CF-ers encounter. I have PFTs around 120% and am 20. I have never been hospitalized, but still have to take enzymes and do inhaled treatments. Since there are over 1000 mutations for CF it's hard to say which mutations are good or bad. I thought the most interesting fact was the 75% of cf-ers that have delta508/delta508 are incestious. Since the mutation started in the same person then they had a kid and eventually they had kids and it spread. But the same mutation coming back together is in essence your very distant cousin.
I looked it up on the database: <a target=new class=ftalternatingbarlinklarge href="http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/yF3000mb8008Z400Mm/6.0.25.5.7.1.0.1
">http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/yF3000mb8008Z400Mm/6.0.25.5.7.1.0.1
</a>
It really doesn't say much about it but there were several others listed with the same two mutations that your dd has. It doesn't say much about whether patients tend to be PI or PS (pancreatic sufficient or insufficient).
">http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/yF3000mb8008Z400Mm/6.0.25.5.7.1.0.1
</a>
It really doesn't say much about it but there were several others listed with the same two mutations that your dd has. It doesn't say much about whether patients tend to be PI or PS (pancreatic sufficient or insufficient).
Talk to your doctor, or contact someone at your brothers CF clinic. A simple blood test is all you need. I think a lab called "Ambry Genetics"? will give you a more in depth analysis if you are a carrier. My sister-in-law just got tested to see if she was a carrier because she was trying to get pregnant. My son had a positive sweat and just recently was tested to see what genes he has, but we don't have the results yet.