A. Serra

Allelic frequency distribution of 17 STRs from Identifiler and PowerPlex-16 in Central Portugal area and the Azores archipelago

This study analyzes the allelic frequency distribution of 17 STRs contained in the AmpFlSTR Identifiler (Applied Biosystems) and PowerPlex16 System (Promega) commercial kits for two large population samples from the Azores archipelago (Portugal) (N=475) and from Central Portugal (N=2125). Likewise, it includes a comparative study among the population groups analyzed in this paper and those which history points out as originating from the first settlers of the Azores. All loci were highly polymorphic. The Central Portuguese area and the Azores archipelago population samples are in Hardy-Weinberg equilibrium for the 17 markers analyzed.

Paternal and maternal lineages in Guinea-Bissau population

The aim of the present work was to study the origin of paternal and maternal lineages in Guinea-Bissau population, inferred by phylogeographic analyses of mtDNA and Y chromosome defined haplogroups. To determine the male lineages present in Guinea-Bissau, 33 unrelated males were typed using a PCR-SNaPshot multiplex based method including 24 Y-SNPs, which characterize the main haplogroups in sub-Saharan Africa and Western Europe. In the same samples, 17 Y-STRs (included in the YFiler kit, Applied Biosystems) were additionally typed. The most frequent lineages observed were E1b1a (xE1b1a4,7)-M2 (68%) and E1a-M33 (15%). The European haplogroup R1b1-P25 was represented with a frequency of 12%. The two hypervariable mtDNA regions were sequenced in 79 unrelated individuals from Guinea-Bissau, and haplogroups were classified based on control region motifs using mtDNA manager. A high diversity of haplogroups was determined in our sample being the most frequent haplogroups characteristic of populations from sub-Saharan Africa, namely L2a1 (15%), L3d (13%), L2c (9%), L3e4 (9%), L0a1 (8%), L1b (6%) and L1c1 (6%). None of the typical European haplogroups (H, J and T) were found in the present sample of Guinea-Bissau. From our results, it is possible to confirm that Guinea-Bissau presents a typically West African profile, marked by a high frequency of the Y chromosome haplogroup E1b1a(xE1b1a4,7)-M2 and a high proportion of mtDNA lineages belonging to the sub-Saharan specific sub-clusters L1 to L3 (89%). A small European influx has been also detected, although restricted to the male lineages.

Distribution of Y-chromosomal haplotypes in the Central Portuguese population using 17-STRs

17 Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS456, DYS391, DYS392, DYS393, DYS385 a/b, DYS458, DYS439, DYS635, GATA H4.1, DYS437, DYS438 and DYS448) were determined for 303 unrelated males, living in Central Portugal, using the AmpFlSTR YFiler PCR Amplification kit (Applied Biosystems). A total of 287 different haplotypes were found, 272 being unique. The overall haplotype diversity (HD) was determined as 0.9996, a value similar to other YFiler data sets. Y-STR polymorphisms in Central Portugal population, using YFiler, provide a powerful discrimination tool for routine forensic applications.

Genetic study of 15 STRs loci of Identifiler system in Angola population.

Angola is located in the African continent, in the area of southern Africa and has a population of approximately 14 million inhabitants. The Angola population has origin from Occidental and Southern Bantu people that came from the great lakes region, creating the most ever known African migration of our days. Allele frequencies for the 15 STRs loci in the AmpFlSTR Identifiler kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, HUMTH01, D13S317, D16S539, D2S1338, D19S433, HUMVWA, TPOX, D18S51, D5S818, HUMFIBRA/FGA and including the segment of the X-Y homologous gene amelogenin) were studied for Angola population. The genotype frequency of the 15 STR loci showed no significant deviations from Hardy-Weinberg equilibrium expectations and great values for the combined power of discrimination and combined power of a priori exclusion validate the application of these markers in forensic genetics. Comparative analyses between Angola population data and other relevant population database from Africa, Europe and American are presented.

Y-STR haplotypes in three ethnic linguistic groups of Angola population

Abstract A total of 166 males from three main ethnic linguistic groups (Bakongo, Kimbundo and Ovimbundo) in Angola population were typed for the Y-chromosome STRs DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439 and DYS385 with the PowerPlex Y Kit (Promega). In Angola population a total of 138 haplotypes were identified being 120 unique. The genetic diversity ranged from 0.1478 (DYS392) to 0.7010 (DYS389 II) and the haplotypes diversity for 11 loci was computed to be 0.9969. There are no significant differences between the three ethnic linguistic groups.

Allele frequencies for fifteen STR loci in Guinea-Bissau population.

Guinea-Bissau population, ethnical groups: Balanta, Beafada, Cassanga, Fula, Mancanha, Mandinga, Manjaco, Nalu Papel, n=92

Genetic anomaly and clinical history and its implication in paternity analysis

This paper describes a paternity case investigation that became a maternity investigation, in which the mother of two dizygotic male twins referred having received a bone marrow transplant, donated by her sister, seven years before, due to a sickle cell disease. The study of 17 STRs with different commercial kits revealed two maternal inconsistencies with one child and one inconsistency with the other. The alleged father was excluded as the biological father without genetic information of the mother. After receiving our report, the court decided to investigate the maternity relative to the children. Supplementary studies with more STRs and with other mother biological tissues revealed distinct genetic profiles in blood, epithelial cells and hair roots. The profile obtained from the hair roots was consistent with being the mother of her children. This case shows the importance of accurate information about the medical condition of all the involved persons, along with the collection of hair roots, especially when one of the participants has had a bone marrow transplant.

Analysis of Y-chromosomal haplotypes and haplogroups distribution in a population sample from Portugal (central area)

Abstract The aim of this study was to analyse the distribution of Y-chromosomal haplotypes and haplogroups found in central Portugal. In this work, we analysed 102 unrelated individuals of central Portugal. Combining the allelic state of 10 biallelic markers (YAP, SRY-8299, 92R7, 12f2, SRY-1532, SRY-2627, Tat, SY81, M9, LLY22g), we defined the haplogroup to which each sample belonged. Y-chromosomal haplotypes were defined by 16 Y-Short Tandem Repeats (STR) (DYS19, DYS3855 a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4 and GATA H4). This population study defined 8 different haplogroups and 101 different haplotypes, where 100 haplotypes were unique and 1 was found in two apparently unrelated individuals, both belonging to the same haplogroup.