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X-chromosomal STRs: Metapopulations and mutation rates

Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.

The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from p...


A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels...

Pereira, R.; Alves, C.; Aler, M.; Amorim, A.; Arévalo, C.; Betancor, E.; Braganholi, D. [UNESP]; Bravo, M. L.; Brito, P.; Builes, J. J.; Burgos, G.

Made available in DSpace on 2018-12-11T16:49:58Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-01-01; A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency...

Date: 2018   |   Origin: Oasisbr

Results of the GEP-ISFG collaborative study on an X-STR Decaplex

Gusmão, L.; Alves, C.; Sánchez-Diz, P.; Zarrabeitia, M.T.; Abovich, M.A.; Aragón, I.; Arce, B.; Arrieta, G.; Arroyo, E.; Atmetlla, I.; Baeza, C.

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group with a PCR multiplex for X chromosome STRs. Markers were selected among those described as polymorphic in humans and that have been used by some laboratories in forensics. Primers and various technical methods were investigated with the aim of optimizing a multiplex for the 10 selected X-STRs. Primer mix stock solutions were s...


Y-chromosome haplotypes in East Timor (Timor-Leste): Evidences of population di...

Souto, L.; Gusmão, L.; Ferreira, E.; Pires, A.; Rocha, A. M.; Amorim, A.; Côrte-Real, F.; Vieira, D. N.

Haplotype frequencies were determined for 346 individuals from East Timor and 3 major ethnolinguistic groups were compared, putting in evidence the need for detailed analyses below the level of the major ethnolinguistic groups. Search of Timorese haplotypes matches in international databases returns few hits and almost all with Philippine data.; http://www.sciencedirect.com/science/article/B7581-4JSBXBX-37/1/9d...


Y-chromosome STR haplotypes in East Timor: Forensic evaluation and population data

Souto, L.; Gusmão, L.; Ferreira, E.; Amorim, A.; Côrte-Real, F.; Vieira, D. N.

http://www.sciencedirect.com/science/article/B6T6W-4FVJC03-2/1/4d12524a22b2805e723ce2af692237f6


A case of double alleles at three Y-STR loci: forensic implications

Diederiche, M.; Martín, P.; Amorim, A.; Corte-Real, F.; Gusmão, L.

In a genetic study of unrelated donors from Bahia (Brazil), one sample contained a 16 Y-STR haplotype with double peaks at three loci: DYS389 II, DYS437 and DYS439. The son of the subject had the same haplotype as found in the father. This profile was compared with a similar case found in a paternity case investigation in Madrid (Spain) and a match was found for the full 16 Y-STR haplotype. Because these three ...


Population data on 15 autosomal STRs in a sample from East Timor

Souto, L.; Alves, C.; Gusmão, L.; Ferreira, E.; Amorim, A.; Côrte-Real, F.; Vieira, D. N.

Allele frequencies for the fifteen STRs included in the AmpF/STR Identifiler (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPO and VWA) were estimated from a sample of 186 unrelated individuals from East Timor. No deviations from Hardy-Weinberg equilibrium were observed (only after applying the Bonferroni correction in the cases of D2S1338, TPO and D5S...


Pattern of mtDNA Variation in Three Populations from São Tomé e Príncipe

Trovoada, M. J.; Pereira, L.; Gusmão, L.; Abade, A.; Amorim, A.; Prata, M. J.

We have analysed the matrilineal genetic composition of three self-reported ethnic groups from São Tomé e Príncipe (Gulf of Guinea), an African archipelago whose settlement begun in the late fifteenth century. Sequence data from the hypervariable segments I (HVS-I) and II (HVS-II) were obtained for 30 Angolares, 35 Forros and 38 Tongas. The repertory of mtDNA lineages in São Tomé e Príncipe denoted a fully Afri...


POP-Gene TIMOR: first forensic DNA marker study of East-Timor people

Souto, L.; Gusmão, L.; Amorim, A.; Ferreira, E.; Côrte-Real, F.; Vieira, D. N.; Silva, E. F. da Cruz e

The first population-genetics study for the world newest independent country, East Timor, is presented. In this preliminary work, part of a major ongoing study on East-Timor genetic diversity, the allele frequencies and some statistical parameters of forensic interest were determined for the 15 loci included in AmpFLSTR Identifiler(TM) genotyping kit. A total of 107 samples, collected from East Timorese of seve...


Evidence for population sub-structuring in São Tomé e Príncipe as inferred from...

Trovoada, M. J.; Alves, C.; Gusmão, L.; Abade, A.; Amorim, A.; Prata, M. J.

Seven Y-chromosome STR loci, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 have been analysed in population samples of Angolares, Forros and Tongas, three ethnic groups from the African archipelago of São Tomé e Príncipe (Gulf of Guinea). Complete typings were obtained for 103 chromosomes, which belonged to 79 different haplotypes. The mean heterozygosity per locus in the overall São Tomean sample...


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