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Deletions and conflicting results re:23 and 'Stirling'-help?

Discussion in 'Genetic Testing and SNPs' started by Laurel6123, May 9, 2014.

  1. Laurel6123

    Laurel6123

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    First question: My son and I have several deletions-GSTT, among others. Is a deletion worse than a homo SNP, or is it a case by case deal?

    Too much conflicting info and my brain can't process it effectively at the moment!



    2nd:23andme shows me as homozygous GG for L432V, related to estrogen clearance as I understand it.
    Stirlings app lists the troublesome allele as C, which would indicate no issue.

    However, my estrogen 2:16OH ratio has been perpetually skewed despite Ca Gluconate (glucarate?) and high doses of DIM, which would, on the surface, indicate that GG is,indeed the troublesome allele, unless there's another factor at play, of which I am currently unaware.

    Any thoughts on the subject? (either one?) I'm puzzled.

    Thank you!
  2. Sea

    Sea Senior Member

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    NSW Australia
    L432V
    Our DNA strands have 2 paired sides. Whenever you have a G on one side you will have a C on the other. Whenever you have an A on one side you will have a T on the other. So C and G are called complementary alleles, as are A and T.

    One strand is called forward or plus and the other reverse or minus. This is called orientation. 23andme reports all alleles on the forward strand. Other places report some on the forward and some on the reverse strand. It is particularly difficult when the two options for a mutation are complementary alleles. This is known as an ambiguous snp.

    In order to determine which allele you have relative to the research you have to take orientation into account. In this case your GG from 23andme is on the forward strand which is equal to CC on the minus strand. DbSnp reports this snp in minus orientation so you have to look at what it says about CC to find the relevance to you. It says that C encodes the protein Leucine (the L in L432V). According to DbSnp this is the normal allele.

    Some snps can have a positive effect on one condition and a negative effect on another so you can't always say one is the risk allele and the other one normal.

    http://www.snpedia.com/index.php/Rs1056836

    GSST1
    This is a gene in the detox pathway that is missing in around 15% of Europeans. It does have some effect on the ability to detox certain medications and environmental toxins. A deletion is not necessarily more serious than a snp. It all depends on what effect the change has and also whether there are other genes that overlap in function and can compensate for what is missing.

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