Design of analytic systems of SNPS for the identification of physical traits for forensic purposes

Resumo

In forensic genetics, information from forensic DNA phenotyping (FDP) has the ability to aid criminal investigations if conventional identification procedures fail. From all human externally visible characteristics (EVCs), pigmentation traits are amongst the most variable and conspicuous human phenotypes, representing promising candidate EVCs for DNA prediction. This thesis aimed to design compact genetic tests able to derive information about the eye, hair and skin colour of an individual. Different SNaPshot technology based multiplexes for pigmentation phenotype inference have been developed and have shown the ability to distinguish between a variety of distinct pigmentation traits. Nevertheless, a major challenge lies in the analysis of pigmentation in admixed individuals as well as in the determination of intermediate eye, hair, and skin tones.