Population data of 30 insertion/delection polymorphisms from a sample taken in the North of Portugal

Excerpt

The interest of forensic researchers in the human biallelic insertion/deletion polymorphisms (indels) is due to their abundance and ease of analysis, which makes them useful for many applications [1]. These polymorphisms are valuable candidates for ancestry informative markers, as the main populations present remarkable allele frequency distributions [2]. Moreover, they have potential advantages, such as low mutation rates, and are amenable to a high degree of thoroughness on an automated platform. Their study can cause improvement in the analysis of degraded samples, concerning the short amplicon sizes (restricted to 150 bp for the DIPplex Kit), combining the desirable characteristics of Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs) [3, 4]. Hence, in combination with standard markers, these polymorphisms improve the power of discrimination and provide potential supplementary data for paternity testing. As they do not possess stutter products or microvariants, they could be a good option for solving forensic cases, mainly in relation to reliable mixture interpretation [4]. Thus, the multiplex amplification of 30 deletion/insertion polymorphism (DIPs) and Amelogenin (Investigator DIPplex, Qiagen) makes them a powerful tool in the forensic field. The purpose of this study was to determine the population data of 30 DIPs taken from a sample in the north of Portugal. …