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article about how HD mutates and other HD related genetic facts

Posted by eve 
eve
article about how HD mutates and other HD related genetic facts
April 16, 2013 12:16PM
[www.ncbi.nlm.nih.gov]

This is a reputable article that probably is nothing new to anyone (it's dated April of 2004). But I think it's worth pointing out because I can remember reading that some people have said that if pHD people didn't have children, the disease would be gone. This article explains how that is not possible nor true due to mutations/expansions. I just thought I'd post it to help educate those who were under a different impression. Here is the part that explains this:

Recent studies suggest that the frequency of new mutation to HD may be substantially higher than previously suspected.21 Almqvist et al.21 estimate that 24% of new diagnoses of HD represent individuals who have no family history of the illness. These studies suggest that the mutation rate may be as high as 6.9 per million,21 which is double previous estimates.22 Thus the use of HD testing is valuable in the absence of family history.
Finally, some individuals enter the testing protocol with the view that they are obliged to be tested or that if everyone at risk for HD were tested and all those proven to be gene-positive opted not to have children, the disease could be eliminated in a single generation. Unfortunately, the relatively substantial mutation rate to HD21 demonstrates that although testing may reduce the prevalence of the disease it will never eliminate it altogether.
Re: article about how HD mutates and other HD related genetic facts
April 16, 2013 05:57PM
Thank You for posting this, even though it's old...it does have some significant information that is applicable for everyone. There is quite a bit of information out there, and one individual can only read so many articles about the topic! This one covers a lot.
Re: article about how HD mutates and other HD related genetic facts
April 17, 2013 06:56PM
I'm one of the 24 percent. Lot's to think about. Lot's I don't know. Maybe my family is better off not knowing what HD really looks like. Thanks for the post.
Mike
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