TY - JOUR
T1 - Prediction of eye and skin color in diverse populations using seven SNPs
AU - Spichenok, Olga
AU - Budimlija, Zoran M.
AU - Mitchell, Adele A.
AU - Jenny, Andreas
AU - Kovacevic, Lejla
AU - Marjanovic, Damir
AU - Caragine, Theresa
AU - Prinz, Mechthild
AU - Wurmbach, Elisa
N1 - Funding Information:
The authors would like to thank Dr. Grace Axler-DiPerte, Gloria Wan, and Amanjot Singh for their help in collecting samples. The authors are very grateful of the support of Mimi Mairs, Esq., who helped establishing the project. This work was funded by New York City Office of Chief Medical Examiner .
PY - 2011/11
Y1 - 2011/11
N2 - An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.
AB - An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.
KW - Eye color
KW - Identification of human remains
KW - Pigmentation
KW - SNPs
KW - Skin color
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U2 - 10.1016/j.fsigen.2010.10.005
DO - 10.1016/j.fsigen.2010.10.005
M3 - Article
C2 - 21050833
AN - SCOPUS:80052267479
SN - 1872-4973
VL - 5
SP - 472
EP - 478
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 5
ER -
