Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Mitochondrial DNA control region variation from samples of the Moroccan population.

In an effort to facilitate forensic mitochondrial DNA (mtDNA) testing in Morocco, high-quality control region sequences from 509 individuals were generated using a comprehensive processing and data review system. This large dataset of random samples from various Moroccan population groups (Arab speaking, Berber speaking, and Sahrawi speaking) exhibited a low random match probability (0.52 %) and a mean of pairwise comparisons of 13.24. The Moroccan mtDNA gene pool studied here was defined entirely by West Eurasian (58.15 %) and African haplogroups (41.85 %).

Assessment of phylogenetic structure of Berber-speaking population of Azrou using 15 STRs of Identifiler kit.

Allele frequencies for 15 STR autosomal loci of Identifiler kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) in the Moroccan population of Berber-speaking of Azrou, were assessed from a sample of 201 unrelated individuals. Markers D18S51, D2S1338, FGA and D21S11 present the highest power of discrimination (PD) values while D21S11 was the most polymorphic locus in the studied population. The phylogenetic tree established among worldwide populations, shows that Berber-speaking population of Azrou was so close to the Berber-speaking population of Asni but also to the Arab-speaking population of southern Morocco. Nevertheless, a significant distance was observed between populations of Azrou and Bouhria even they share the same dialect (Amazigh) and belong to the same geographical area (Morocco). The 15 STR loci studied appear to be highly discriminating, thus providing a powerful tool for forensic applications, paternity investigation, individual identification and anthropological studies.

Haplotype frequencies for 17 Y-STR loci (AmpFlSTRY-filer) in a Moroccan population sample.

A sample of 267 unrelated Moroccan males from different ethnic groups (Arabs, Berbers and Sahrawi), was typed for 17 Y-STR loci (DYS19, DYS385, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y GATA H4). Discrimination capacity (96.3%) and haplotype diversity (99.91%) were calculated. A total of 257 haplotypes were identified, of which 237 were unique and 10 were found in two individuals each. DYS385 showed the highest diversity (0.887) followed by DYS458 (0.820) as a single locus marker.