Publications (4)3.65 Total impact
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Article: Population data of the AmpFlSTR(®) NGM™ loci in South Portuguese population.
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ABSTRACT: Allele frequencies and other relevant forensic parameters for 15 loci studied with AmpFlSTR(R) NGM™ kit were calculated in a population of individuals residing in the south of Portugal. Blood stain samples were obtained from a total of 452 unrelated individuals involved in paternity testing casework. The kit has five loci - D10S1248, D22S1045, D2S441, D1S1656 and D12S391 not present in any other kit used in our laboratory (Powerplex 16 System and Identifiler Plus). In our laboratory, this new kit is used as a screening tool to solve deficient cases as fatherless paternity test, and to help in paternity investigations with only one genetic incompatibility after the use of routine seventeen loci. Furthermore, this five loci included in the European Standard Set are also recommended by the European Network of Forensic Science Institutes "ENFSI" and the European DNA Profiling group "EDNAP". These studies are necessary to calculate statistical forensic parameters such as power of discrimination, power of exclusion, minimum allele frequency. Statistical parameters such as heterozigoty, homozigoty and combined power of exclusion were determinated. This kind of study is part of the Quality Program for Certificated Forensic Laboratories.Forensic science international. Genetics 11/2012; · 2.42 Impact Factor -
Article: Autosomal SNPs in paternity investigation
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ABSTRACT: Ten of the most polymorphic autosomal single nucleotide polymorphisms (SNPs) (∼50% heterozygosity) in European populations, especially NW Spain, selected from a 52 SNP panel for human identification reported by Sanchez et al. [J.J. Sanchez et al., A multiplex assay with 52 single nucleotide polymorphisms for human identification, Electrophoresis, 27 (2006), 1713–1724] were amplified in one PCR reaction followed by detection by single base extension reaction with SNaPshot® multiplex kit. A total of 80 individuals from a South Portuguese population were typed and allele SNP frequencies were estimated which are in agreement with published population genetic studies. More than 20 paternity investigation cases, already performed routinely with STRs, were also studied. In exclusion cases, one, two or three exclusions, mainly in A08 and A12, have been detected. Even performing few SNP loci, but selecting SNPs with allele frequencies near 0.5, the SNP methodology can also be a useful tool in paternity investigation.Forensic Science International Genetics Supplement Series 01/2008; 1(1):507-509. -
Article: Mini-SGM multiplex in degraded samples
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ABSTRACT: A five Mini-SGM multiplex which encompasses TH01, FGA, D18S51, D16S539 and D2S1338, common STR markers in human identity testing, have been performed. Two cases with different biological tissues were selected to illustrate the usefulness of this technique in forensic casework. The use of routine methodology can sometimes give only a partial genetic profile or no profile at all. However, using the Mini-STR technique, a full profile was obtained for the majority of the degraded samples. We conclude that the Mini-SGM methodology is more sensible than routine methodology for degraded samples, although a full genetic profile is not obtained in all cases as results are still very much sample-dependent. This Mini-SGM multiplex can be considered a useful tool to complement conventional STR analysis in degraded samples.Forensic Science International Genetics Supplement Series 01/2008; 1(1):100-101. -
Article: Use of eight X-chromosomal STRs in paternity investigation
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ABSTRACT: A new commercial kit, Mentype1 Argus X-8, which analyzes eight X-chromosomal STR markers – DXS7132, DXS7423, DXS8378, DXS10074, DXS10101, DXS10134, DXS10135 and HPRTB, was used. A hundred and one South Portuguese Caucasian individuals and 60 paternity investigation cases, previously performed with routine STRs markers, were studied. Allele frequencies were estimated for the eight XSTRs. More than five exclusions between the alleged father and the female child were observed in almost all exclusion cases, especially in DXS10101, DXS10134 and DXS10135 loci. This set of eight X-chromosomal STRs appears to be quite useful for father–daughter studies and in some kinship investigations.Forensic Science International. 01/2008; 1:522–524. -
Article: Angola population data with AmpFlSTR profiler plus.
Journal of Forensic Sciences 02/2003; 48(1):202-3. · 1.23 Impact Factor -
Article: Haplogroup H sub-lineages with mitochondrial SNPs
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ABSTRACT: The most common European lineage (haplogroup H) represents more than 50% of a South Portuguese population sample, which can be poorly discriminative in forensic casework. To detect haplogroup H sub-lineages, seven mitochondrial DNA coding-region SNPs have been studied—3010, 3915, 3992, 4336, 4769, 4793 and 6776, using minisequencing methodology. In our population, seven haplogroup H sub-lineages were obtained, although the paraphyletic cluster H* still predominates. The most frequent sub-lineages were H1 (3010A) and H3 (6776C), in agreement with other Portuguese and Spanish population studies. H7 (4793G) haplogroup was also detected in our study, being rare in some populations. SNaPshot® methodology provides a simple, rapid and informative method to sub-type haplogroup H for forensic casework.Forensic Science International Genetics Supplement Series 1(1):285-286.
Top Journals
Institutions
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2012
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Instituto Nacional de Medicina Legal (Portugal)
Coimbra, Distrito de Coimbra, Portugal
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