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confused by allele difference

fibrodude84

Senior Member
Messages
191
Genetic genie puts my risk allele at AA for MTHFR C677T yet Promethease has me as TT.

what's going on?
 

Critterina

Senior Member
Messages
1,238
Location
Arizona, USA
They are just looking at different strands (forward or reverse) of one helix of DNA. If you have A on forward, you have T on reverse. If you have C on forward, you have G on reverse. When 23andMe reports a result like AC, they aren't talking about the two nucleic acids facing each other, positive and negative, on the same strand, but what you got from each of your parents. The A will have a T facing it, and C will have a G facing it.

Also, I understand that 23and Me also reports the positive strands, and puts them in alphabetical order, so it will always be AC, not CA. If you have two results next to each other, AC, AC, you can't tell that the two As are from the same parent.
 

Sea

Senior Member
Messages
1,286
Location
NSW Australia
The slightly longer answer is that you have to be aware of what is known as orientation. DNA has two strands, one is designated forward or plus and the other reverse or minus. (This has nothing to do with inheriting 2 sets of alleles from your parents) Genetic testing usually only reads one strand because the other is always known from reading one. The alleles are known as complementary. A always pairs with T and C always pairs with G. So, if a test says you have an A allele in the forward orientation you will have a T allele on the reverse and vice versa.

23andme do all their testing on the forward strand. Alleles reported in the research may be forward or reverse. The C677T mutation is reported on the reverse.

So Genetic Genie is reporting your alleles as found on 23andme (in forward orientation), Promethease is reporting as found in the research (in reverse orientation).