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Identifying Ötzi the Iceman’s Relatives

In 1991, German tourists in the Alps discovered the mummified remains of a man who died approximately 5,000 years ago. Named Ötzi, the remains have been studied extensively and have revealed a wealth of information about life in this region.

Ötzi’s DNA

Of note to genetic genealogists, Ötzi’s DNA has also been the subject of extensive analysis.  In February 2012, sequencing of Ötzi’s full genome was announced (see here and here) which revealed, among other things, that the Iceman probably had brown eyes, belonged to blood group O, and was lactose intolerant.  He may also have had Lyme disease, as the genome of the infectious agent  Borrelia burgdorferi was also identified in the sequencing effort.

Ötzi’s Y-DNA belongs to a subclade of Haplogroup G defined by the SNPs M201, P287, P15, L223 and L91 (G-L91).  As far as I know, he has not yet been typed for any of the subclades downstreaming from G-L91. More information can be found at the G-L91 page of the Haplogroup G Project, and elsewhere online.

Ötzi’s Relatives – NOT his descendants!

Researchers from the Institute of Legal Medicine at the Innsbruck Medical University in Austria have published research in which they analyze the Y-DNA of 3,700 male blood donors from the Tyrol region of Austria where Ötzi was found (“High resolution mapping of Y haplogroup G in Tyrol (Austria)“).  They found that about 4% of haplogroup G members, or about 19 people, belonged to G-L91.  These individuals are, therefore, relatives of Ötzi through their paternal line.

This month, the media has taken this story and run with it, making a few mistakes along the way.  For example, Discovery News writes in “Living Relatives of Iceman Mummy Found“:

“These men and the Iceman had the same ancestors,” Walther Parson, the forensic scientist who carried out the study, told the Austrian Press Agency.

Having carried Y chromosome haplogroup analysis, Parson was able to trace only the male descendants of the Neolithic man.

Despite the journalist’s inaccurate statement, we can never know for sure whether these individuals are just relatives or actual descendants of the Iceman.

It will be interesting to see whether additional analysis of Ötzi’s Y-DNA will reveal more specific SNPs and lead to better identification of his male relatives.

Blaine Bettinger

Intellectual property attorney, genealogist, and author of The Genetic Genealogist since 2007

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