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Got my FGS results!!!

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  • girlperson1
    replied
    http://www.ncbi.nlm.nih.gov/sites/en...&term=FJ008043

    My FGS is now officially on line with GenBank.

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  • girlperson1
    replied
    Haplogroups are determined by what mutations are found in the control region. Without testing the control region you can take an educated stab at figuring out a haplogroup by looking at HVR1 and 2 but the control region will give you the definite answer.

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  • girlperson1
    replied
    Dr. Turner describes X2 vs. X2b as follows You have the mutations that define haplogroup X (6221C, 6371T, 13966G, and 14470C) and the subclade X2 (1719A). X2 in turn has been subdivided into smaller groups, X2a to X2f, but you do not have any of those mutations. Thus you might be called X2*, where the asterisk is a wild card meaning

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  • girlperson1
    replied
    Something is wrong with the posting. Messages are cutting cut off.

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  • girlperson1
    replied
    Continuation of message that got cut off

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  • girlperson1
    replied
    Continuation of message that got cut off:

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  • girlperson1
    replied
    Dr. Turner describes X2 vs. X2b as follows:

    "You have the mutations that define haplogroup X (6221C, 6371T, 13966G, and 14470C) and the subclade X2 (1719A). X2 in turn has been subdivided into smaller groups, X2a to X2f, but you do not have any of those mutations. Thus you might be called X2*, where the asterisk is a wild card meaning
    Last edited by girlperson1; 20 August 2008, 09:43 PM. Reason: Entire message is not posted. End is getting cut off.

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  • vinnie
    replied
    Hi girlperson1,


    Just wondering why you're not considered X2b anymore. You match all the known HVR2 mutations for it, 195C, 225A, and 226C, that are listed at the X haplogroup project.

    Vinnie

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  • penguin
    replied
    Originally posted by girlperson1
    The one mutation that matched was this one:

    MT-DLOOP Type 2 Diabetes/Cardiomyopathy/Endometrial cancer risk T16189C 16189 T-C noncoding + + Reported

    But frankly, I'm not worried about it especially if they determine their findings on a small handful of people. I find it more interesting and curious than anything else.
    My recollection is that it's correlated with the fact that 16189C means that you (and tons of others) have a rather long string of C's in a row. If you look at the table of the "letters" at individual positions in your control regions (if you first ordered control regions, then family tree dna results included that table) youll see a bunch of Cs made longer by a mutation at that position. In coding regions, long strings can signify potential trouble, though not always. Others may be able to say more, but it seems related to an increase in the odds of errors each time it copies- if you're counting laps when you swim- can you really remember if it was 16 laps or 17 laps you just did?. Long strings also seem capable of influencing nearby positions. Control regions are complex - as some know, so called "junk DNA" is being shown to have alot more effect than first thought. on the other hand, didn't they just find someone with a huge string deleted in control region with no apparent effect at all?

    I agree with you - it's interesting. Information of all sorts is interesting. and sure beats not having information.

    next step in understanding your FGS is to see which of your 30 mutations are part of defining your haplogroup (and its links higher in the heirarchy) and which are unique to you. This will also clarify the ambiguity of old vs. new. It will tell you how unique each of your mutations are. I'll tell you more as soon as I get a chance how to do this- it's easy.

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  • GhostX
    replied
    Originally posted by girlperson1
    The one mutation that matched was this one:

    MT-DLOOP Type 2 Diabetes/Cardiomyopathy/Endometrial cancer risk T16189C 16189 T-C noncoding + + Reported

    But frankly, I'm not worried about it especially if they determine their findings on a small handful of people. I find it more interesting and curious than anything else.
    I'd have to read the study that this came from to see how they were able to make that association, but I just don't see how there could be any causal relationship there between that mutation and any of those conditions. It could just be that this particular mutation happened to occur disproportionately often in people with those conditions in one study (by random chance), but the mutation itself couldn't have caused the diseases.

    As you said, it's more of a curiosity than anything. Dr. Turner might be able to tell you more.

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  • girlperson1
    replied
    Originally posted by GhostX
    HVR mutations shouldn't be tied to diseases, as they do not code for anything (unless they define a haplogroup which also tends to have certain coding region mutations). Which mutation are you referring to?

    As for the number of mutations, think of it this way... having a lot of mutations showing in your test results doesn't actually mean that you have more mutated mtDNA than other people do. It only means that you are far removed from the haplotype of the particular person who was used to create the reference sequence (who was just some random person who happened to be in H haplogroup subclade). If the reference sequence happened to instead be a person from X2, then you would probably show no mutations at all (or very few).
    The one mutation that matched was this one:

    MT-DLOOP Type 2 Diabetes/Cardiomyopathy/Endometrial cancer risk T16189C 16189 T-C noncoding + + Reported

    But frankly, I'm not worried about it especially if they determine their findings on a small handful of people. I find it more interesting and curious than anything else.

    Leave a comment:


  • GhostX
    replied
    Originally posted by girlperson1
    I found one mutation in the HVR1 region that was tied to three diseases. Nothing in HVR2 or the control region.
    HVR mutations shouldn't be tied to diseases, as they do not code for anything (unless they define a haplogroup which also tends to have certain coding region mutations). Which mutation are you referring to?

    As for the number of mutations, think of it this way... having a lot of mutations showing in your test results doesn't actually mean that you have more mutated mtDNA than other people do. It only means that you are far removed from the haplotype of the particular person who was used to create the reference sequence (who was just some random person who happened to be in H haplogroup subclade). If the reference sequence happened to instead be a person from X2, then you would probably show no mutations at all (or very few).

    Leave a comment:


  • girlperson1
    replied
    Originally posted by girlperson1
    Oh, this is interesting. Thank you!
    I found one mutation in the HVR1 region that was tied to three diseases. Nothing in HVR2 or the control region.
    Last edited by girlperson1; 11 August 2008, 05:12 PM.

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  • girlperson1
    replied
    Originally posted by tomcat
    Results are expressed as differences from the rCRS. Generally the more differences the younger the haplotype but there is some evidence to suggest there is not a uniform 'clock rate' for changes across all lines.

    Are you sure the MORE differences, the YOUNGER the haplotype? I look at haplogroup H and see no mutations but looking at haplogroup L I see as many as 85 mutations.

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  • girlperson1
    replied
    Originally posted by penguin
    now you can also go to www.mitomap.org

    Scroll down until you get to "MtDNA Mutations with Reports of Disease-Associations". On the left side are 2 options organized by mtDNA location. Click on both of those. Look up each of your 30 mutations to see if there's any disease association to it. (when you click on each of those 2 optons, look at the 4th column to find your mutations if any are listed - that's where the locations are listed in alphabetical - I mean numerical - order).
    Oh, this is interesting. Thank you!

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