Insertion/Delection Polymorphism and forensic aplications: A preliminary study

Abstract

The human genetic identification is usually based on the study of STR markers, robust and reliable for samples containing relatively small quantities of DNA. Recent advances in forensic genetics have focused on the development of genotyping assays using shorter amplicons, in order to improve the successful amplification of degraded samples. Single Nucleotide Polymorphisms (SNP) and Insertion/Deletion polymorphisms (INDEL), length polymorphisms created by insertions or deletions of one or more nucleotides in the genome, have considerable potential in this kind of forensic samples, usually present in identification casework, since they can combine desirable characteristics of both, STR and SNP. In this study, a set of 30 biallelic Deletion/Insertion polymorphisms (DIP or INDEL) distributed over 19 autosomes plus Amelogenin in a single multiplex PCR reaction was applied to 100 healthy and unrelated caucasian individuals. Statistical analysis revealed that the 30 biallelic markers can provide satisfactory levels of informativeness for forensic demands.