M.C. Vide

Results of a collaborative study regarding the standardization of the Y-linked STR system DYS385 by the European DNA Profiling (EDNAP) group

Y-chromosome linked short tandem repeat (STR) loci are inherited as a closely linked haplotype, which appears to remain stable in a given paternal lineage over many generations. In forensic cases, Y-linked STRs are particularly useful for the identification of human remains as well as in rape cases with mixed male/female stain samples. DYS385 is derived from tandemly duplicated segments of the Y chromosome thus giving rise to two fragments of variable length which do not behave like alleles but genotypes. The European DNA Profiling (EDNAP) group has carried out a collaborative exercise among 14 participating laboratories using DYS385 for typing of five unknown bloodstains and a control sample. Furthermore, population data from eight different European countries with samples sizes between 91 and 150 male individuals were collected. The results confirm previous observations that DYS385 is one of the most informative Y-linked STR loci. It could also be demonstrated that reproducible results can be obtained independently from the electrophoretic separation and detection methods used. Thus DYS385 may serve as a useful complementation to the routinely used autosomal STR systems in special cases.

Report of the European DNA profiling group (EDNAP): an investigation of the complex STR loci D21S11 and HUMFIBRA (FGA)

This paper describes a collaborative exercise which was intended to demonstrate whether uniformity of DNA profiling results could be achieved between European laboratories using two complex short tandem repeat (STR) loci. The loci D21S11 and HUMFIBRA (FGA) were chosen because they are commonly used by different European laboratories. D21S11 has approximately 14 common alleles (f > 0.001), whereas HUMFIBRA has 19 common alleles. Laboratories were asked to test seven blood stains, one of which was a known control, and to report the results to the coordinating laboratory. The exercise demonstrated that complex STRs were amenable to standardisation.

Y-chromosome STR haplotypes in a southwest Spain population sample

The Y-chromosome polymorphism of eight STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392; DYS393, DYS385) were studied in 111 unrelated individuals from the population of southwest Spain. The most common haplotype was shared by 3.6% of the sample, while 99 haplotypes were unique. The gene diversity was 0.9977.

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.

A study on ten short tandem repeat systems: African immigrant and Spanish population data.

This work presents the results obtained from a genetic-population study for the D1S1656 system in the population of Southwest Spain (Huelva, Cádiz and Sevilla), Spaniards of Caucasian origin from North Africa (Ceuta), as well as in the black Central West African and Moroccan immigrant populations in Spain. The results of a study of the autochtonous population of the Canary Islands (n=138), and immigrant Central West African populations in Spain (n=132), obtained for nine short tandem repeat (STR) loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820), as well as the amelogenin locus, all contained in Profiler Plus (Perkin-Elmer) PCR amplification kits, are also presented. Except for the FGA and VWA data on immigrant Central West African populations in Spain, no deviations from the Hardy-Weinberg equilibrium were detected.

Case reportReport on the third EDNAP collaborative STR exercise

This report describes an inter-laboratory exercise completed on behalf of the European DNA Profiling (EDNAP) group. The exercise is one in a series designed to identify STR loci which could be used for harmonisation between participating European forensic science laboratories. Participants were asked to identify the alleles present in five bloodstains at the STR loci HUMTHO1 and HUMVWFA31/A. Two of the stains were prepared from mixtures of two different blood samples. There were no special instructions and each laboratory was requested to use the methodology normally employed for crime case investigations. All participating laboratories achieved the same results for both loci. In addition, the laboratories were also requested to report the results obtained from any other loci which would normally be used in crime case investigations. A comparison of these results showed some inter-laboratory variation.

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.

Population Study of HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS Systems in Azores

The tetrameric short tandem repeat polymorphisms HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS were studied in blood stains obtained from a population of unrelated individuals from the Azores Archipelago (Portugal). Gene frequencies were determined and no deviation from the Hardy-Weinberg equilibrium was found. However, the allelic independence test between loci showed linkage disequilibrium between HUMVWA31/A and HUMFES/FPS. A combined discrimination power and chance of exclusion of, respectively, 0.9999 and 0.9534, reveal the high forensic interest of the four systems. No differences with other caucasoid populations were found, but comparison with some asiatic, eskimo, and amerindian populations showed significant statistical differences.

Y-chromosome STR haplotypes in Central-West African immigrant in Spain population sample.

Blood samples were obtained from 103 healthy unrelated blackWest African immigrant population in Spain from different coun-tries situated to the south of the Sahara desert. The DNA was ex-tracted using Chelex 100 protocol as described by Walsh et al. (1). The quantity of recovered DNA was determined using Quan-tiBlot® Human DNA Quantitation Kit (Perkin Elmer). DYS19,DYS389I, DYS389II, DYS390, and DYS393 were amplified asdescribed by Gusmao et al. (2). The DYS385 amplification con-ditions complied with the methodology described by Schneider etal. (3). The PCR was performed in a Perkin Elmer 9600 thermo-cycler.Allele nomenclature was proposed by Kayser et al. (4) and deKnijff (5) with the exception of the DYS389 locus. The nomencla-ture of this locus was according Gusmao et al. (2).Electrophoresis was carried out on 4% polyacrylamide dena-turing sequencing gels in a 377 automated system (AppliedBiosystems Division/Perkin Elmer). Genotype classification wasdone using Genescan PCR analysis software with Local SouthernMethod and by side-to-side comparison with allelic ladders.These ladders were kindly provided by Dr. Carracedo (Institute ofLegal Medicine of Santiago de Compostela), Dr. P.M. Schneider(Institut fur Rechtsmedizin, Mainz, Germany). Haplotype diver-sity was calculated according to Nei (6). Analysis of MolecularVariance (AMOVA) was performed by Markov test using the Ar-lequin software 1.1 (7). Genetic distance matrix between popula-tions were obtained by using the pairwise difference genetic dis-tance.A total of 98 different haplotypes were observed (Table 1), 93 ofthem being unique. The most common haplotype (DYS19: 15,DYS385: 16/16, DYS389I: 10, DYS389II: 28, DYS390: 21, andDYS393: 13) had frequency of 1.94% (h16, h21, h22, h38, andh54). Haplotype diversity for each of the markers is shown in Table1. Haplotype diversity for all seven Y-specific STR loci in Central-West African Immigrant in Spain population was calculated to be0.9990 (standard error: 0.0015).Pairwise haplotype analysis using the population studied andother Iberian andAfrican populations (8,9) shows the valencian (

A population-genetic study of the DYS385 haplotypes in two Spanish populations and the African immigrant population in Spain.

A Population-Genetic Study of the DYS385 Haplotypes in Two Spanish Populations and the African Immigrant Population in Spain