Filipino dna variation at 36 Y-chromosomal short tandem repeat (STR) marker units

Abstract

© 2019, Department of Science and Technology. All rights reserved. Y-chromosomal short tandem repeat (Y-STR) markers are used in deficient paternity testing cases, in the detection of male DNA in vaginal smears/swabs collected during investigations of sexual assault cases, and in the identification of missing persons and disaster victims. The increasing relevance of Y-STR DNA typing to forensic practice necessitates evaluation of new markers with high gene diversity and mutation rates in the population. This study presents the work done for the Philippine population. Y-STR haplotypes composed of 36 Y-STR marker units were analyzed in a Filipino population sample of 299 individuals using the PowerPlex® Y23 (PPY23) system and protocols of the International RM Y-STR Study Group that target a set of 13 Rapidly Mutating Y-STR (RM Y-STR) comprising 15 Y-STR marker units. Concordant results were observed at two RM Y-STR marker units, namely DYS570 and DYS576, that are included in both assays. Allele frequency and gene diversity were estimated for each Y-STR marker unit, while haplotype frequency and haplotype diversity were estimated for several combinations of Y-STR marker units. The inclusion of 15 RM Y-STR marker units increased the power of the Filipino Y-STR database to differentiate paternally related males. Comparison of the Filipino Y-STR haplotype data at 36 Y-STR marker units with other populations showed the same level of substructuring for the 21 slow and moderately mutating Y-STR marker units based on geographic locations. This highlights the importance of using an appropriate population database in forensic casework. In addition, the observed high diversity of RM Y-STR haplotypes supports the need for studying diverse group of populations to characterize the extent of RM Y-STR haplotype variation. The Filipino Y-STR haplotype database reported in this study would be of great use for reliable estimation of haplotype frequency for statistical evaluation of forensic caseworks in the Philippines.

Source or Periodical Title

Philippine Journal of Science

ISSN

317683

Page

43-52

Document Type

Article

Subject

Chromosome, Filipino, Population genetics, Rapidly mutating (RM) Y-STRs, Short tandem repeats (STRs), Y-STR marker units

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