L. Andrade

Y-chromosome STR haplotypes in two population samples: Azores Islands and Central Portugal

The Y-chromosome haplotypes defined by nine STRs (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were studied in 207 unrelated individuals from Central Portugal and 63 from Azores Islands. The most common haplotype in Central Portugal was shared by 3.4% of the males, while 160 haplotypes were unique. In Azores Islands the most common haplotype was shared by 6.4% of the males, while 40 haplotypes were unique. The values of haplotype diversity were 0.993 for Central Portugal and 0.976 for Azores Islands.

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.

Analysis of paternal lineages in Brazilian and African populations

The present-day Brazilian population is a consequence of the admixture of various peoples of very different origins, namely, Amerindians, Europeans and Africans. The proportion of each genetic contribution is known to be very heterogeneous throughout the country. The aim of the present study was to compare the male lineages present in two distinct Brazilian populations, as well as to evaluate the African contribution to their male genetic substrate. Thus, two Brazilian population samples from Manaus (State of Amazon) and Ribeirão Preto (State of São Paulo) and three African samples from Guinea Bissau, Angola and Mozambique were typed for a set of nine Y chromosome specific STRs. The data were compared with those from African, Amerindian and European populations. By using Y-STR haplotype information, low genetic distances were found between the Manaus and Ribeirão Preto populations, as well as between these and others from Iberia. Likewise, no significant distances were observed between any of the African samples from Angola, Mozambique and Guinea Bissau. Highly significant Rst values were found between both Brazilian samples and all the African and Amerindian populations. The absence of a significant Sub-Saharan African male component resulting from the slave trade, and the low frequency in Amerindian ancestry Y-lineages in the Manaus and Ribeirão Preto population samples are in accordance with the accentuated gender asymmetry in admixture processes that has been systematically reported in colonial South American populations.

Population genetic data for the STR loci using the AmpFlSTR® Identifiler™ Kit in Bahia, Brazil

The AmpFlSTRR Identifilerk is a multiplex kit which coamplifies 16 STR loci, including the segment of the X-Y homologus gene Amelogenin. The study of these STR loci is important for the formation of local human identification databases in order to statistically evaluate the evidence. This report presents allele frequency data for 15 STR loci in 150 unrelated individuals from Bahia, Brazil. The genotype frequencies of the 15 STR loci showed no deviations from HWE expectations. The combined power of exclusion is estimated as 99.99996% and the combined power of discrimination is 99.9999999999999999%. D 2003 Elsevier B.V. All rights reserved.

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.