Tuesday, September 11, 2012

Paleoanthropology, genealogy and the miracle of DNA. Part Five.



Sharon’s (mitochondrial & autosomal) & brother Willy’s (Y-chromosome) DNA results

Family Finder test (autosomal; Sharon)

This test identifies and matches SNPs (Single Nucleotide Polymorphism) in the autosomal DNA which comes equally but randomly from both parents. It is thus a “gender neutral” test.

FTDNA Autosomal Database Matches

This can potentially match you with relatives descended from any of your ancestral lines from up to five or six generations.  Sharon got one confirmed 2nd cousin on the “close/immediate” category with whom she has already exchanged emails.  There were also 27 pages of total matches, most of which are in the 3rd - 5th cousin or “distant/speculative” categories. 

Autosomal Population Finder

This compares the subject’s autosomal signature to a world DNA population database which reflects the last 100 to 2,000 years (about 4 to 80 generations).  This data is based on rapidly-emerging technology and will undoubtedly change over the coming years as the population definitions are further refined.

Region
Population
%
Margin of Error
Western European
Orcadian reference group. Poss. descendants of Picts (Iron Age “Celts”) & Vikings (Norse explorers from the late 8th  cent.).
94.57%
±1.67%
Middle East
Palestinian, , Bedouin, Bedouin South, Druze, Iranian, Jewish.
5.43%
±1.67%

Full genome mitochondrial test (MtDNA; Sharon)

This tests sequences of the HVR1, HVR1 and Coding Regions of the mitochondrial DNA. Due to the mtDNA slow mutation rate, the tests are more applicable to deep ancestry predictions than to more recent genealogical applications.

MtDNA Haplogroup

Sharon belongs to the mitochondrial haplogroup J2a1a.  J (Bryan Sykes’ clan Jasmine) is believed to have originated in the Near/Middle East about 45000 years ago and is thus one of the oldest in Europe and the Middle East.  J2 is thought to be associated with the spread of agriculture from Mesopotamia during the Neolithic period about 18,500 years ago.  J2 is also interesting because it has been detected in Turkey, Italy, Sardinia, Iberia, and Iceland. These are all populations with traditionally prominent fishing industries and thus this connection might suggest recent migration paths that are related to the economic opportunities offered by fishing. J2a is now found homogenously across most of Europe but seems to be largely absent elsewhere. In searching for famous ancients who are members of the J2 MtDNA haplogroup, I only came up with Francesco Petrarca (1304 –1374), known as Petrarch, who was an Italian scholar & poet and one of the earliest humanists.

FTDNA MtDNA Database Matches and Project Groups

HVR1 only.   There are 105 matches, all in the J or J2a1a haplogroups. Most have a maternal country of origin from Western Europe.

HVR1 + HVR2. There are nine matches, all of haplogroups J or J2a1a and with maternal ancestry from the British Isles.

HVR1 + HVR2 + Coding Region (Full Genome Sequence, FGS). Sharon has two matches. Of these, one is a J2a1a with a maternal origin from Ireland. No data on the other. However, MTDNA creates relatively few mutations and thus can travel the female descent line for many generations before a mutation happens. Consequently, paper-trail connections are often elusive and the relevance of random matches, even at the FGS level, can be low in genealogical terms although a shared geographic maternal origin can sometimes be indicated.  Nevertheless, matches on the Coding Region could be important; for an exact FGS match, there is a 90% chance that the MRCA is within 16 generations or about 400 years. Both matches were contacted and one responded but with no obvious genealogical links within the time-frame of the two documented pedigrees.

Y-DNA test (Willy)

This test identifies genealogical connections on the direct paternal lineage and also suggests paternal ancestral origins via the Y-chromosome short tandem repeats (STR) or Single Nucleotide Polymorphisms (SNP).

Y-Haplogroup (STR prediction)

Willy belongs to the R1b1a2 Y-Haplogroup.  Haplogroup R is one of the two branches of the mega-haplogroup P and originated approximately 30,000 years ago in Central Asia. It has two main branches, R1 and R2. R1 spread from Central Asia into Europe while R2 spread east into the Indian subcontinent. Several of Willy’s matches (see below) are from the R1b1a2a1a1b5a sub-haplogroup which have a high occurrence amongst the Basque, French, Spanish and Portuguese. For Willy’s own sub-haplogroup to be determined, the FTDNA Deep Clade test would be required.

R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe. One study determined its origin to be about 18,500 years before the present and are the direct descendants of Cro-Magnon man who dominated the Upper Paleolithic expansion into Europe.  R1b1a2 is believed to have expanded throughout Europe as humans re-colonized after the last ice age which ended approximately 10-12 thousand years ago. The Egyptian pharaoh, Tutankhamun (134 – 1323 BC) also belongs to the haplogroup R1b1a2.

FTDNA Y-chromosome Database Matches

Willy has a very high number level of matches, many with the same last name or a variant of it.  At the higher marker levels, the most-distant (chronologically) paternal country of origin as known by the subject, are all in the British Isles (plus one from Germany).

  • 67-marker level.  12 matches.   1-7 step “genetic distance”. Six have the Isaacs last name (or variant).
  • 37-marker level.  24 matches.  0-4 step “genetic distance”. Fifteen have the Isaacs last name (or variant).
  • 25-marker level.  105 matches.  0-2 step “genetic distance”. Fifteen have the Isaacs last name (or variant).
  • 12-marker level.  418 matches.  0-1 step “genetic distance”. Sixteen have the Isaacs last name (or variant).


At the 67-marker level, for men who share a common surname and who have matches of genetic distances of 0-2 steps, they most likely share a common ancestor within a genealogical timeframe. For an exact match (0 steps), this means there is a 50% chance that the most recent common ancestor (MRCA) is within three generations or less and a 90% it is within five generations or less. Willy does not have any exact (0 step) 67-marker matches but does have five matches at this marker level with genetic distances of 1 or 2 and the same last name. These should be the first people to contact to establish a genealogical relationship.

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