Problems of Forensic Sciences 2009 Vol. 77 (LXXVII) 29-52
STUDIES ON PREDICTING PIGMENTATION PHENOTYPE FOR FORENSIC PURPOSES
Wojciech BRANICKI
Institute of Forensic Research, Krakow, Poland
Streszczenie
Differences in pigmentation phenotype are mainly due to variation in the amount, type and distribution of melanin. This biopolymer pigment is synthesised in a complex biochemical process called melanogenesis, which takes place in specialised melanocyte structures known as melanosomes. Melanin is then stored in the melanosomes, which are further transported into keratinocytes, resulting in skin and hair coloration. These complicated cellular processes are thought to be controlled by more than 120 pigmentation genes. Studying their polymorphism may allow us to understand the genetic basis of observed human skin, hair and eye colour variation. A tiny fraction of these genes, e.g. MC1R, OCA2, SLC45A2 and ASIP, has been the subject of more thorough examinations, while some others, such as SLC24A4, KITLG or TPCN2, have only been identified as potential contributors to the significant variation in human pigmentation phenotype and await more detailed research. Studies on genetics of pigmentation are important not only for medical purposes, but are of potential use in forensic science, as an analysis of variation in pigmentation genes may in the future allow prediction of phenotypic features that would be of special importance at the investigative level.
Słowa kluczowe
Forensic genetics; Pigmentation; Association study; Pigmentation genes; Phenotype prediction.