title: Variants of the melanocortin 1 receptor gene (MC1R) and P gene would be effective for estimating the population origin of an individual.
abstract: The population origin of an individual is often required to be determined from specimens left at a crime scene for estimating a suspect and individual identity. The melanocortin 1 receptor gene (MC1R) and P gene are associated with human pigmentation. Although there have been several reports that these genes are highly polymorphic in human populations, it is unclear if the allele variants can be used to estimate the population origin of an individual. We aimed to estimate the ethnic origin of a particular individual by using single nucleotide polymorphisms (SNPs). Four SNPs (MC1R gene: R163Q and P gene: IVS5+1001, IVS13+113 and H615R) were genotyped in 394 volunteers from 4 ethnically defined populations using a PCR-based assay. The results revealed that the allele variants were present with high frequency 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 for estimating the population origin of an individual from a list of population groups.
authors.affiliation: Forensic Science Laboratories, Shiga Police Headquarters, 1-34-3 Karasaki, Otsu, Shiga 520-0106, Japan. momotaro1228@gaia.eonet.ne.jp
authors.forename: Sosuke
authors.initials: S
authors.lastname: Masui
authors.forename: Masato
authors.initials: M
authors.lastname: Nakatome
authors.forename: Ryoji
authors.initials: R
authors.lastname: Matoba
mesh_terms: D000483:Alleles; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; D044102:Receptor, Melanocortin, Type 1