A new multiplex for human identification using insertion/deletion polymorphisms

Abstract

Human identification is usually based on the study of STRs or SNPs depending on the particular characteristics of the investigation. However, other types of genetic variation such as insertion/deletion polymorphisms (indels) have considerable potential in the field of identification, since they can combine the desirable characteristics of both STRs and SNPs. In this study, a set of 38 non-coding bi-allelic autosomal indels reported to be polymorphic in African, European, and Asian populations were selected. We developed a sensitive genotyping assay, which is able to characterize all 38 bi-allelic markers using a single multiplex PCR and detected with standard CE analyzers. Amplicon length was designed to be shorter than 160 bp. Complete profiles were obtained using 0.3 ng of DNA, and full genotyping of degraded samples was possible in cases where standard STR typing had partially failed. A total of 306 individuals from Angola, Mozambique, Portugal, Macau, and Taiwan were studied and population data are presented. All indels were polymorphic in the three population groups studied and the random match probabilities of the set ranged in orders of magnitude from 10(-14) to 10(-15). Therefore, the indel-plex represents a valuable approach in human identification studies, especially in challenging DNA cases, as a more straightforward and efficient alternative to SNP typing.

Genetic analysis of 30 InDel markers for forensic use in five different Chinese populations

“…Several different InDel marker panels have been published in the last two years (Edelmann et al, 2009;Pereira et al, 2009;Li et al, 2010;Pimenta and Pena, 2010), including the 29plex panel with the SNPlex genotyping system in our previous study (Li et al, 2010). This report of allele frequencies of 30 new InDel markers would serve as a valuable reference database for individual identification in the 5 Chinese populations studied in the future.…”

Comparison of 3 Methodologies for Genotyping of Small Deletion and Insertion Polymorphisms

“…Highly polymorphic and biallelic deletions and insertions have been described to be attractive alternatives to microsatellite and short tandem repeat analyses for forensic human identification and paternity testing (8,9 ).…”

Analysis of post-transplant chimerism by using a single amplification reaction of 38 Indel polymorphic loci

“…8,9 Therefore, indels are emerging as a useful tool for genetic identification. 10,11 However, there are currently no published studies on the application of Indels to determine the donor/ recipient cell proportion after HSCT. Hence, the aim of this study was to compare the effectiveness of analyzing 38 Indels in a single routine genotyping reaction as a procedure to assess chimerism after HSCT.…”