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Genetic Test Update
May. 18th, 2009 05:09 pmThe blood draw Sparkle had a few weeks ago came back with no matches to the five known genetic correlations with types of autism, but she did have "an anomolous deletion on chromosome 9p23."
Nope, nobody knows what that means, just that it's there (or, rather, not there). Doing online research on chromosome 9p23 reveals that it's the chromosome on which albinism is coded, and one of several that codes proteins for making insulin for the body.
My darling husband and I are going in for blood tests to see whether Sparkle's chromosome is inherited from one (or both) of us, or is a new mutation.
I have some random thoughts that since I have diabetes, perhaps this deletion comes from me, and might be an indicator that my daughter is at risk for developing diabetes (which we already knew because I've manifested...) Or perhaps my vitaligo (going albino in patches, exacerbated by thyroid issues and diabetes) might encoded on this gene.
Who knows? We might be the first family that enables the medical community to identify a sixth known genetic correlation for autism. Or, it might not mean anything. I mean, there are lots of unneeded repeats in the genetic code, right? I still think it's very interesting, and I'm pleased that we're contributing to the research to find out more, even if it turns out to be unrelated.
FOR SCIENCE!
Nope, nobody knows what that means, just that it's there (or, rather, not there). Doing online research on chromosome 9p23 reveals that it's the chromosome on which albinism is coded, and one of several that codes proteins for making insulin for the body.
My darling husband and I are going in for blood tests to see whether Sparkle's chromosome is inherited from one (or both) of us, or is a new mutation.
I have some random thoughts that since I have diabetes, perhaps this deletion comes from me, and might be an indicator that my daughter is at risk for developing diabetes (which we already knew because I've manifested...) Or perhaps my vitaligo (going albino in patches, exacerbated by thyroid issues and diabetes) might encoded on this gene.
Who knows? We might be the first family that enables the medical community to identify a sixth known genetic correlation for autism. Or, it might not mean anything. I mean, there are lots of unneeded repeats in the genetic code, right? I still think it's very interesting, and I'm pleased that we're contributing to the research to find out more, even if it turns out to be unrelated.
FOR SCIENCE!
