Problems of Forensic Sciences 2009 Vol. 77 (LXXVII) 79-88
POLYMORPHISM OF THE SLC45A2 GENE AND PROSPECTS FOR ITS APPLICATION IN FORENSIC SCIENCE
Jolanta DRAUS-BARINI1, Magdalena MARCIŃSKA1, Urszula BRUDNIK2, Wojciech BRANICKI1
1Institute of Forensic Research, Krakow, Poland
2Department of Dermatology, Collegium Medicum of Jagiellonian University, Krakow, Poland
Streszczenie
The SLC45A2 gene encoding 560-amino acid membrane associated transporter protein has been found to influence the melanosomes differentiation pathway and thus it is considered one of the most important pigmentation genes. It has been shown that two non-synonymous polymorphisms, rs26722 and rs16891982, and some SNPs located in the promoter region of SLC45A2 are associated with physiological differences in human pigmentation. Here we present results of research conducted on one of these promoter region polymorphisms – rs6867641 (c.-1169G > A) in a population of individuals from Poland with pigmentation characteristics defined by dermatological survey. Results of this study show the prevalence of the ancestral allele c.-1169G present in this population sample and a weak association of the rs6867641 with eye colour but not with skin and hair colour. The problem of differences between the association pattern characteristic for SLC45A2 and various population samples is discussed.
Słowa kluczowe
Forensic genetics; SLC45A2; Association study; Forensic phenotype prediction; Replication inconsistency.