January 14, 2013

Multiplex determination of eye and hair color

From the paper:
Sample S24 represents a controversial case from the Benedictine Abbey in  Tyniec near Krakow. During the work undertaken in the crypt of the St. Peter and Paul  church belonging to the Abbey, 17 skeletons of alleged abbots were found. The burial was  dated to the period of the 12th to 14th centuries. Unexpectedly, the anthropological  examination revealed that two skeletons may be of female origin, which indeed was  confirmed by DNA analysis (data not shown), while only male monks were expected. One of the two DNA samples was sufficiently preserved to enable analysis of other nuclear markers  (data not shown) and was used here for HIrisPlex analysis. The mysterious woman was  predicted to have dark blond/brown hair (accuracy of 78.5%) and brown eyes (accuracy of 90.4%), (Table 2 and Figure 2B). 
Two medieval  skeletons were found under the floor between the chancel and the nave of the church. Based  on historical markers the grave was dated to originate from the 14th century. Further  anthropological examinations indicated that the S25 male died at the approximate age of 60,  whereas the S26 male was approximately 75 years old at the time of death. It is alleged that  the skeletons belong to members of the Teczynski family, representing noble Polish magnates  of medieval times. The tooth collected from the deeper burial (S25) was found to be seriously  affected by decay, which was reflected by a very low DNA concentration (3 pg/µl) and  incomplete autosomal and Y chromosome STR profiles (NGM and Yfiler). Complete  mtDNA HVI and HVII profiles were generated in both teeth (data not shown). From these  data it was possible to conclude that both skeletons are of male origin and are unrelated in  both maternal and paternal lines. From the partial HIrisPlex profile ascertained from S25 we  successfully inferred blue eye colour (P = 0.899, accuracy of 95.6%), but hair colour could  not be inferred because of missing genotypes at three DNA variants (N29insA, rs1805005,  rs2228479). The sample S26 revealed a prediction of blond hair colour (P = 0.784) together  with a light hair colour shade (P = 0.918) concluding that the individual had light blond hair  (accuracy of 69.5%). Eye colour prediction of S26 revealed blue eyes (P = 0.919, accuracy of  97.4%) (Table 2).
Wikipedia article on Tęczyński family.

Investigative Genetics 2013, 4:3 doi:10.1186/2041-2223-4-3

Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains

Jolanta Draus-Barini

Abstract (provisional)


DNA analysis of ancient skeletal remains is invaluable in evolutionary biology for exploring the history of species, including humans. Contemporary human bones and teeth, however, are relevant in forensic DNA analyses that deal with the identification of perpetrators, missing persons, disaster victims or family relationships. They may also provide useful information towards unravelling controversies that surround famous historical individuals. Retrieving information about a deceased person's externally visible characteristics can be informative in both types of DNA analyses. Recently, we demonstrated that human eye and hair colour can be reliably predicted from DNA using the HIrisPlex system. Here we test the feasibility of the novel HIrisPlex system at establishing eye and hair colour of deceased individuals from skeletal remains of various post-mortem time ranges and storage conditions.


Twenty-one teeth between 1 and approximately 800 years of age and 5 contemporary bones were subjected to DNA extraction using standard organic protocol followed by analysis using the HIrisPlex system.


Twenty-three out of 26 bone DNA extracts yielded the full 24 SNP HIrisPlex profile, therefore successfully allowing model-based eye and hair colour prediction. HIrisPlex analysis of a tooth from the Polish general W[latin small letter l with stroke]adys[latin small letter l with stroke]aw Sikorski (1881 to 1943) revealed blue eye colour and blond hair colour, which was positively verified from reliable documentation. The partial profiles collected in the remaining three cases (two contemporary samples and a 14th century sample) were sufficient for eye colour prediction.


Overall, we demonstrate that the HIrisPlex system is suitable, sufficiently sensitive and robust to successfully predict eye and hair colour from ancient and contemporary skeletal remains. Our findings, therefore, highlight the HIrisPlex system as a promising tool in future routine forensic casework involving skeletal remains, including ancient DNA studies, for the prediction of eye and hair colour of deceased individuals.