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Mrs. N

Interepreting Gene Test Results

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I have been loosely diagnosed gluten intolerant. All of my tests for Celiac Disease were negative, though I have responded profoundly positive to strict adherence to the total elimination of gluten from my diet.

Since I've gone gluten-free, my mother and one of my aunts (mom's sister) has gone gluten free, and I have discovered that my cousin- same side of the family - went gluten-free about a year before I did. My Mom and my cousin both experienced dramatic positive responses to diet change. My aunt seemed to have a positive response, but she has Down Syndrome, and Down Syndrome people seem to have a common hang up about believing they're healthy, she doesn't always tell us when she's feeling poorly, so it has been hit and miss with her. My Mom and I think we see a couple of big differences, but we can't even get Aunt to acknowledge the issue.

Aunt recently had testing through Enterolab, and I'd really like to know what the result of her gene test means to the rest of the family, since it seems that both of my grandparents had at least one "gluteny" gene. I have no idea what I'm looking at, how to read it, or how to compose a search string to learn more about it! Would someone please help me to understand what it is that I'm looking at?

HLA-DQB1 Molecular analysis, Allele 1: 0302

HLA-DQB1 Molecular analysis, Allele 2: 0301

Serologic equivalent: HLA-DQ 3,3 (Subtype 8,7)

Interpretation Of HLA-DQ Testing: HLA-DQB1 gene analysis reveals that you have one of the main genes that predisposes to gluten sensitivity and celiac sprue, HLA-DQB1*0201 or HLA-DQB1*0302. Each of your offspring has a 50% chance of receiving this gene from you, and at least one of your parents passed it to you. You also have a non-celiac gene predisposing to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having one celiac gene and one gluten sensitive gene, means that each of your parents, and all of your children (if you have them) will possess at least one copy of a gluten sensitive gene. Having two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity or celiac disease may be more severe.

Thanks in advance!


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the DQ8 means this is the other celiac gene (DQ2 is the main celiac gene)

To confuse you even further, the DQ7 probebaly has the 05* alpha chain, which confers a risk for celiac at its own. Consider it half a DQ2 gene (the alpha half) which also confers a risk for celiac.

All in all, aunt definitely has the official celiac gene Dq8 and probably half a celiac DQ2 in addition.

(but not all DQ7 have this 05* alpha chain. See the chart at en.wikipedia.org type in HLA DQ there is a good chart that should explain about the 0301 and 0302 and 05* things, what they mean in all of this)

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