mtDNA Results

mtDNA Results Your Haplogroup and mutations relative to the Cambridge Reference Sequence (CRS) are shown below. A value of CRS indicates no mutations. High resolution (HVR2) results are shown only if you have requested the mtDNAPlus or mtDNA Refine test. If you ordered a Mega mtDNA the Coding Region (CR) will be displayed below. Understanding your results. As you go through your mtDNA results, we strongly encourage you to read the mtDNA Results Tutorial that we have put together in the form of frequently asked questions about mtDNA results. HVR1 Haplogroup U5a1a HVR1 differences from CRS 16157C 16192T 16256T 16270T 16320T 16399G Copy and paste this table only to Excel or Word. You may need to adjust column widths in Excel after the paste operation. U5a1a Specific mitochondrial haplogroups are typically found in different regions of the world, and this is due to unique population histories. In the process of spreading around the world, many populations—with their special mitochondrial haplogroups—became isolated, and specific haplogroups concentrated in geographic regions. Today, we have identified certain haplogroups that originated in Africa, Europe, Asia, the islands of the Pacific, the Americas, and even particular ethnic groups. Of course, haplogroups that are specific to one region are sometimes found in another, but this is due to recent migration. The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U5, with its own multiple lineages nested within, is the oldest European-specific haplogroup, and its origin dates to approximately 50,000 years ago. Most likely arising in the Near East, and spreading into Europe in a very early expansion, the presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe. Haplogroup U5a1a—a lineage within haplogroup U5—arose in Europe less than 20,000 years ago, and is mainly found in northwest and north-central Europe. The modern distribution of haplogroup U5a1a suggests that individuals bearing this haplogroup were part of the populations that had tracked the retreat of ice sheets from Europe. Copyright 2007 Genealogy by Genetics, Ltd. USAGE POLICY: Use of the above Haplogroup description requires written permission from Genealogy by Genetics.

Cambridge Reference Sequence

The mitochondrion sequenced in 1981 became known as the Cambridge Reference Sequence (CRS) and has been used as a basis for comparison with your mtDNA. In other words, any place in your mtDNA where you have a difference from the CRS, is characterized as a mutation. if your results show no mutations at all, it means that your mtDNA matches the CRS. A mutation happens a) when a base replaces another base - for example a C (Cytosine) replaces an A (Adenine), b) when a base is no longer in that position and c) when a new base is inserted between the other bases without replacing any other. Those mutations are represented below according to the following color code: a) Mutation at position: RED b) Mutation Deleted: Strike c) Mutation Inserted: Green As a way to make it possible to display all the positions that are included in your test, please note that when you see "ATTCTAATTT" under 16010, it actually means that 16001 has an A (Adenine), 16002 has a T (Thymine), 16003 has a T (Thymine), 16004 has a C (Cytosine) and so on... Therefore, if your table of mutations above would show "192A" it means that you should see the 3rd "C" under 16192 replaced by a "A".

HVR1 Reference Sequence (Starts At: 16001) 16010 16020 16030 16040 16050 16060 16070 16080 ATTCTAATTT AAACTATTCT CTGTTCTTTC ATGGGGAAGC AGATTTGGGT ACCACCCAAG TATTGACTCA CCCATCAACA 16090 16100 16110 16120 16130 16140 16150 16160 ACCGCTATGT ATTTCGTACA TTACTGCCAG CCACCATGAA TATTGTACGG TACCATAAAT ACTTGACCAC CTGTAGTACA 16170 16180 16190 16200 16210 16220 16230 16240 TAAAAACCCA ATCCACATCA AAACCCCCTC CCCATGCTTA CAAGCAAGTA CAGCAATCAA CCCTCAACTA TCACACATCA 16250 16260 16270 16280 16290 16300 16310 16320 ACTGCAACTC CAAAGCCACC CCTCACCCAC TAGGATACCA ACAAACCTAC CCACCCTTAA CAGTACATAG TACATAAAGC 16330 16340 16350 16360 16370 16380 16390 16400 CATTTACCGT ACATAGCACA TTACAGTCAA ATCCCTTCTC GTCCCCATGG ATGACCCCCC TCAGATAGGG GTCCCTTGAC 16410 16420 16430 16440 16450 16460 16470 16480 CACCATCCTC CGTGAAATCA ATATCCCGCA CAAGAGTGCT ACTCTCCTCG CTCCGGGCCC ATAACACTTG GGGGTAGCTA 16490 16500 16510 16520 16530 16540 16550 16560 AAGTGAACTG TATCCGACAT CTGGTTCCTA CTTCAGGGTC ATAAAGCCTA AATAGCCCAC ACGTTCCCCT TAAATAAGAC 16569 ATCACGATG HVR2 Reference Sequence (Starts At: 1) 10 20 30 40 50 60 70 80 GATCACAGGT CTATCACCCT ATTAACCACT CACGGGAGCT CTCCATGCAT TTGGTATTTT CGTCTGGGGG GTATGCACGC 90 100 110 120 130 140 150 160 GATAGCATTG CGAGACGCTG GAGCCGGAGC ACCCTATGTC GCAGTATCTG TCTTTGATTC CTGCCTCATC CTATTATTTA 170 180 190 200 210 220 230 240 TCGCACCTAC GTTCAATATT ACAGGCGAAC ATACTTACTA AAGTGTGTTA ATTAATTAAT GCTTGTAGGA CATAATAATA 250 260 270 280 290 300 310 320 ACAATTGAAT GTCTGCACAG CCACTTTCCA CACAGACATC ATAACAAAAA ATTTCCACCA AACCCCCCCT CCCCCGCTTC 330 340 350 360 370 380 390 400 TGGCCACAGC ACTTAAACAC ATCTCTGCCA AACCCCAAAA ACAAAGAACC CTAACACCAG CCTAACCAGA TTTCAAATTT 410 420 430 440 450 460 470 480 TATCTTTTGG CGGTATGCAC TTTTAACAGT CACCCCCCAA CTAACACATT ATTTTCCCCT CCCACTCCCA TACTACTAAT 490 500 510 520 530 540 550 560 CTCATCAATA CAACCCCCGC CCATCCTACC CAGCACACAC ACACCGCTGC TAACCCCATA CCCCGAACCA ACCAAACCCC 570 580 AAAGACACCC CCCA