Analysis of 36 Y-STR marker units including a concordance study among 2085 Dutch males

Abstract

The genotypes of 36 Y-chromosomal short tandem repeat (Y-STR) marker units were analysed in a Dutch population sample of 2085 males. Profiling results were compared for several partially overlapping kits, i.e. PowerPlex Y, Yfiler, PowerPlex Y23, and two in-house designed multiplexes with rapidly mutating Y-STRs. Nineteen Y-STR marker units, of which two are rapidly mutating, reside in at least two of these multiplexes, and for these markers concordance testing was performed. Two samples showed discordant genotyping results and the probable causative base change was revealed by Sanger sequencing. In addition, we encountered concordant, but aberrant genotyping results including one allele with low peak height and several null alleles. For 12 samples, this involved a null allele in two adjacent loci suggesting a large and recurrent deletion as the samples represent three distinct haplogroups. For each marker unit, the allele counts and frequencies are presented, as are the haplotype counts and haplotype diversities for several combinations of markers.

The Dutch Y-chromosomal landscape

“…For our study, we used 2085 blood-donor samples from male donors that are reported to be unrelated and residing in a-priori selected locations. This is the same dataset as published in Westen et al for autosomal STR data [16] and Westen et al for YSTR data [17]. Samples were received anonymously, with only the place of residency of the donor indicated (see also Supplementary information).…”

Forensic Genetics and Genotyping

“…As Y chromosome is passed to the son from his father, analysis of markers on this chromosome helps in the identification of male lineages and inferring paternal genetic ancestry for judicial and investigative purposes (25,(49)(50)(51). Whereas these markers are transmitted as haplotypes in the same way as single locus alleles, they have the lack of recombination.…”

“…sexual assault cases) (43,49,52). The vasectomized or naturally azoospermic rapist leaves no sperm, in such cases,Yspecific profiling is effective, even from samples with 1:4000 male:female DNA ratio (32).…”

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

“…Although, the analysis of Ychromosomal markers can provide complementary information in addition to an autosomal genetic profile [168], the most common application of Y-STRs is in cases of sexual assault, when the female component can greatly overshadow the male component, making autosomal STR profiling frequently difficult, unclear or impossible. Examination of Y-chromosome markers is available in a wide range of commercial kits [12, 169,170] which perform adequately for identifying male lineages.…”