Need Help With Genetic Results

[cjrweb]

Hi,

We just received my husbands genetic results and I understand it only partly. Here it is exactly from the Mayo clinic:

DQ alpha 1 01,05:01

DQ beta 1 02:01,05:01

Celiac gene pairs present? Yes

So...from my understanding so far...the alpha 05:01 is the DQ2. The beta 02:01 is also DQ2. And the beta 05:01 is DQ5.

My questions:

1)What does the alpha 01 mean, the part before the ,05:01?

2)Are the alpha and beta DQ2's from the same gene? He doesn't have 2 DQ2's right?

3)Can we tell which of these came from one parent and which ones from the other parent? For example, did only one parent pass on the DQ2 or did they both send a DQ2 to him?

4)When they say that yes the celiac gene pairs are present, what does this mean? What is the pair?

5)I see on the web people saying "I'm a DQ2/DQ8 and my wife is a DQ2/DQ2". So according to these results, what would my husband be?

Thanks so much! We will be contacting the primary doctor that ordered these tests, but not sure if he will know really either how to interpret. His doctor was somewhat reluctant to complete this test for him, but he did in the end. Plus, we are not seeing a Mayo doctor, but our local clinic sent the bloodwork to Mayo's lab.

Looking forward to your input. This sight has been most helpful for us!

cjr

[Takala]

I'm just going to bump this up before it flies off the page.

the funky punctuation messes up my reading number sequences.... somebody else needs to read this. "celiac pairs.... " there's definitely 2 of something there.

I think you want this chart here Open Original Shared Link

and there is another chart here Open Original Shared Link

try this Open Original Shared Link best explanation

see the post on this thread, has more links

Not everybody who inherits the genes gets the disease, because about 30% of the population (varies with what ethnic groups you have in your background) carries some of the DQ2 or DQ8 stuff, but of those people who do get celiac or gluten intolerance, it's much less, only about 1 in 100 now, but they are very likely to have these genes. There is a very small subset of people who are British who have the DQ1 instead and yet are gluten intolerant.

I think you can have one 2, two 2s, or one 8, or a 2 and an 8. The DQ 8 is inherited as a dominant gene so you'd only need one copy to have the effect, but the DQ2 can be inherited either way, and with 2 recessive genes, homozygous, one from each parent, you get the expression stronger. You could also inherit the DQ8 from each parent.

[Skylark]

DQ alpha 1 01,05:01

DQ beta 1 02:01,05:01

Celiac gene pairs present? Yes

Hi there. The main Wikipedia article on HLA-DQ explains alpha and beta chains. Most folks around here only get beta tested.

Open Original Shared Link

I don't understand the "01" by itself in the alpha results either. Could it be 01:01? From what you've posted thus far your husband can make DQ2.5, the HLA-DQ receptor that predisposes people to celiac. One copy of 2.5 is not as bad as two, but he may react to gluten some even if he came back negative on the celiac tests.

There is no way to tell which allele came from which parent. Each parent only passes on one of their alpha alleles and one of their beta alleles to a child. Typically alpha 05:01 and beta 02:01 are inherited together because they are "linked" meaning they are physically close on the DNA strand. He probably (better than 99% likely) got those from one parent, and the DQ5 from the other. This means one of his parents is very likely to also have DQ2.5 and be predisposed to celiac. His other parent is DQ5 for one of the two DQ genes.

I try to check threads I've added info to, but I'm very busy at work right now and may not get back to this thread. I hope the Wikipedia articles and other board members help you sort this out better if you need it.