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Gene variations question

Discussion in 'Genetic Testing and SNPs' started by Azrael, Nov 8, 2013.

  1. Azrael

    Azrael

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    Hey

    Was looking around but never got an explanation from just reading. So my question is following which im sure many of you know:

    1)

    When someone has +/+ and +/- and then the name/number of gene what exactly does that mean ?

    2)

    +/+ and +/-, are those 2 the only variations ?

    So -/+ or -/- does not exists ? Im sure it's all logical when you know the answer.

    Hope someone can explain this to me.

    Thanks
  2. Azrael

    Azrael

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    3) When I do receive my report from 23andme which is the best report converter when you want to know about genes like COMT, MTHFR, CBS and the others I read about on this forum ?

    Going to order the 23andme kit any day now, no point waiting, im walking in the dark like a blind man.
  3. taniaaust1

    taniaaust1 Senior Member

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    Hi. The following is how MTHFR gene mutation works so I supposed the rest does too. With genes you inherit one copy from your mother and one copy from your father (this happens for all things be it for hair colour or whatever, you inherit a gene from both parents which will end up making your hair or your eyes or whatever, what it is).

    A ++ of a mutation gene (mutation= where its different from the normal) is when there is two copies of that mutation gene. - and a + means you just have one copy of it, you are only postive for one copy and hene one plus.

    Some differences from the norm dont do anything harmful while others cause issues with the way a persons body works etc and hence one may need to be doing different things to what is normal. eg ones with MTHFR ++ can only absorb 30% of the folate acid a normal person does as their body cant convert folate and hence should be taking active folate (which body can use in that form).

    MTHFR double copy can be a nasty one as there is increased risk of miscarriages at any pregnancy stage..those with this need to take extra folate during pregnancy and quite possibly may need to take baby asprin to help prevent a possible misscarriage), increased risk of strokes and an increased risk of heart issues at some point. The stroke risk can be gotten down by treating the gene. I strongly recommend seeing a dr who is up to date and specialises in this gene if you have it. This is one gene which is making many of us worst (it affects the methylation cycle etc).

    Other mutations cause other issues. Your gene mutations could well explain some of the issues you have eg I developed some issues I really thought were due to a CBS mutation, when I got the 23andME test I found out I was correct and I did have that mutation affecting things (so sulphur things eg eggs can make me unwell).
    Last edited: Nov 8, 2013
    helen1 likes this.
  4. taniaaust1

    taniaaust1 Senior Member

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    Genetic genie is free to put your raw data from 23andME into and get more report of things. I think it used to just then give a person areading of your polymorphisms and if they were ++ and +- but nowdays it also gives a free report on what you should do about each one (well at least for the methylation mutations which are very relevent for us, they dont as yet thou they do give the results give a full report yet on the detox mutations) .

    Its great one does get a report there nowdays as in the past people had to get their results then come here with the results and ask others about the methylation mutations found. (Note: You'll also get a report on different things from 23andME themselves eg things like inherited medical conditions you may be carrying and which could be affecting you which your dr may of missed, risk factors etc and which could affect you eg in my case from the 23andME data, I found out that I carry one copy of an inherited condition which can cause iron overload in the body and hence damage body organs and cause issues.
  5. taniaaust1

    taniaaust1 Senior Member

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    Without all kinds of tests, yes we then will be walking blindly (and often wasting our money on even more supplements we may not even need or may not actually be good for us in the meantime eg in my case fish oil can be contraindicated with one of my mutations and my previous specialist had me on the wrong form of B12 with my mutations.. having the right form has made more of a difference.. actually found it helped my stamina a bit and started me improving with B12 supplements again).

    Tailoring treatments according to peoples genes, will be a big part of medicine in the future.

    By my raw data, I was also able to learn why Im having so many bad reactions to drugs(by doing some research on my abnormal genes given from my genetic genie results, there is like a wikipedia online just for genes where one can look up each gene and what it does and any research around it). Now are more aware of exactly which I will very likely react badly too. I have a gene mutation which makes me react abnormally to 25% of pharma drugs as my body cant break certain type of drug down properly, hence these easily "poison" me (unfortunately those 25% of drugs are used to treat almost everything but at least now I can avoid those ones and choose others).
    Last edited: Nov 8, 2013
  6. taniaaust1

    taniaaust1 Senior Member

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    The letters are the common way the gene name is shortened and you will be able to find out more about genes by searching for their abbreviations eg MTHFR mutation, the MTHFR stands actually for "methylene tetrahydrofolate reductase" which is a certain ezyme in the body.. the MTHFR gene gives the instruction for making the MTHFR enyme. Not a name you need to know but being usually crazily long names, hence why I guess we always tend tosee gene mutation names abbreviated!!

    Some of my gene mutations I have not just one sort of mutation of a gene around a certain thing but more eg the CYP2D6 mutations in my signature (but I have one abnormal copy of each of these different ones, hence +- ..sometimes having one normal gene can wipe out the effect of the bad one but it depends ont he mutation) I have 3 different kinds of CYP2D6 http://en.wikipedia.org/wiki/CYP2D6 (that's the one which prevents me detoxing many drugs well) mutations (the number 3 in the bracket is just how I choose to express that I had 3 different mutations in that area).
    Last edited: Nov 8, 2013
  7. Valentijn

    Valentijn Activity Level: 3

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    They are just notations used by some people to indicate that they think you have a risky allele. In the case of Yasko, and interpretations based on Yasko (like geneticgenie) there are a lot of errors. So it's important to look into those SNPs yourself, and see if they are actually risky at all, and how risky they are.
    23andMe always reports the alleles in alphabetical order, rather than by strand. Hence +/- and -/+ would mean the same thing, and +/- is always used to show that only one allele is perceived as being risky.

    -/- means that someone thinks that you don't have any risky alleles for that SNP. But they could be wrong. For example, Yasko thinks that the "fast" versions of CBS SNPs are extremely risky, but all research shows that 1) the effect is very mild, and 2) the slow versions are riskier because they result in higher levels of homocysteine.
    Journeyman and helen1 like this.
  8. Sea

    Sea Senior Member

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    Also, some use these notations just to indicate whether you have the minor (+ less frequent) or the major (- more frequent) version of an allele without meaning to attach any risk value. As Valentijn said, it is important to research for yourself and also to understand how someone is using these indicators.
    helen1 likes this.
  9. roxie60

    roxie60 Senior Member

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