Got my FGS results!!!

[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.

[GhostX]

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).

[girlperson1]

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.

[GhostX]

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.

[penguin]

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.

[vinnie]

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

[girlperson1]

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

[girlperson1]

Continuation of message that got cut off:

[girlperson1]

Continuation of message that got cut off

[girlperson1]

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

[girlperson1]

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

[girlperson1]

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.

[girlperson1]

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

My FGS is now officially on line with GenBank.