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Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual

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Abstract

The population origin of an individual is often requested to be determined from specimens left at a crime scene for identifying a suspect and individual identity. The melanocortin 1 receptor gene (MC1R) and P gene are associated with human pigmentation. Although several studies have reported that these genes are highly polymorphic in human populations, it is unclear if the allele variants can be used to determine the population origin of an individual. We aimed to determine the ethnic origin of an individual by using single nucleotide polymorphisms (SNPs). Eighteen SNPs in the MC1R gene and P genes were genotyped in 52 individuals by the direct sequencing method, and 4 SNPs (MC1R gene: R163Q and P gene: IVS5 + 1001, IVS13 + 113, and H615R) were selected on the basis of differences in frequencies. Subsequently, we genotyped these four SNPs in 422 volunteers from six ethnically defined populations using a polymerase chain reaction-based assay. The results revealed that the allele variants were present with high frequencies in Asian populations but were low in European and African populations. On the basis of these results, we defined a specific combination of a genotype (R163Q) and a diplotype group (IVS5 + 1001, IVS13 + 113, and H615R). This study indicates that the specific combination of a genotype and a diplotype group would be effective in estimating the population origin of an individual from a list of population groups.

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Authors and Affiliations

  1. Forensic Science Laboratories, Shiga Police Headquarters, 1-34-3 Karasaki, Otsu, Shiga, 520–0106, Japan

    Sosuke Masui

  2. Department of Legal Medicine, Osaka University Graduate School of Medicine Division of Preventive and Environmental Medicine, 2–2 Yamadaoka, Suita, Osaka, 565–0871, Japan

    Masato Nakatome & Ryoji Matoba

Authors
  1. Sosuke Masui
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  2. Masato Nakatome
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  3. Ryoji Matoba
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Corresponding author

Correspondence to Sosuke Masui.

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Table S1

Four SNPs selected by preliminary sequencing analysis and oligonucleotides for the PCR-APLP method (DOC 53.0 KB)

Table S2

Combined genotypes (CGs) observed in this study, odds ratios calculated from their frequencies and estimated populations in each type of CG (DOC 114 KB)

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Masui, S., Nakatome, M. & Matoba, R. Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual. Int J Legal Med 123, 205–211 (2009). https://doi.org/10.1007/s00414-008-0289-4

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  • DOI: https://doi.org/10.1007/s00414-008-0289-4

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