Original scientific paper
A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
Vanja Kastelic
; National Forensic Laboratory, General Police Directorate, Police Ministry of the Interior, Ljubljana Slovenia
Katja Drobnič
; Faculty of Criminal Justice and Security, University of Maribor, Slovenia
Abstract
Aim To analyze two phenotype characteristics – eye and
hair color – using single-nucleotide polymorphisms (SNPs)
and evaluate their prediction accuracy in Slovenian population.
Methods Twelve SNPs (OCA2 – rs1667394, rs7170989,
rs1800407, rs7495174; HERC2 – rs1129038, rs12913832;
MC1R – rs1805005, rs1805008; TYR – rs1393350; SLC45A2
– rs16891982, rs26722; SLC24A5 – rs1426654) were used
for the development of a single multiplex assay. The single
multiplex assay was based on SNaPshot chemistry and
capillary electrophoresis. In order to evaluate the accuracy
of the prediction of eye and hair color, we used the logistic
regression model and the Bayesian network model, and
compared the parameters of both.
Results The new single multiplex assay displayed high levels
of genotyping sensitivity with complete profiles generated
from as little as 62 pg of DNA. Based on a prior evaluation
of all SNPs in a single multiplex, we focused on the
five most statistically significant in our population in order
to investigate the predictive value. The two prediction
models performed reliably without prior ancestry information,
and revealed very good accuracy for both eye and
hair color. Both models determined the highest predictive
value for rs12913832 (P < 0.0001), while the other four SNPs
(rs1393350, rs1800407, rs1805008, and rs7495174) showed
additional association for color prediction.
Conclusion We developed a sensitive and reliable single
multiplex genotyping assay. More samples from different
populations should be analyzed before this assay could be
used as one of the supplemental tools in tracing unknown
individuals in more complicated crime investigations.
Keywords
single nucleotide polymorphism; human pigmentation; phenotype prediction for eye and hair colour
Hrčak ID:
93988
URI
Publication date:
15.10.2012.
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