title: Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.
abstract: The two genes SLC24A5 and SLC45A2 were recently identified as major determinants of pigmentation in humans and in other vertebrates. The allele p.A111T in the former gene and the allele p.L374F in the latter gene are both nearly fixed in light-skinned Europeans, and can therefore be considered ancestry informative marker (AIMs). AIMs are becoming useful for forensic identification of the phenotype from a DNA profile sampled, for example, from a crime scene. Here, we generate new allelic data for these two genes from samples of Chinese, Uygurs, Ghanaians, South African Xhosa, South African Europeans, and Sri Lankans (Tamils and Sinhalese). Our data confirm the earlier results and furthermore demonstrate that the SLC45A2 allele is a more specific AIM than the SLC24A5 allele because the former clearly distinguishes the Sri Lankans from the Europeans.
authors.affiliation: Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, 830-0011, Japan.
authors.forename: Mikiko
authors.initials: M
authors.lastname: Soejima
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Koda
mesh_terms: D000349:Africa / Q000208:ethnology; D000951:Antigens, Neoplasm / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002681:China / Q000208:ethnology; D016172:DNA Fingerprinting; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*; D013188:Sri Lanka / Q000208:ethnology; D044465:White People / Q000235:genetics
chemical_list: D000951:Antigens, Neoplasm; D017920:Antiporters; D005819:Genetic Markers; D026901:Membrane Transport Proteins; C506584:SLC24A5 protein, human; C510061:SLC45A2 protein, human