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Y-STRs and AZF microdeletions in clinical context samples

Silva, Júlia; Dario, Paulo; Ribeiro, Teresa; Gonçalves, João; Geada, Helena; Costa Santos, Jorge

Forensic geneticists use several Y-STR PCR amplification kits, which are useful in forensic identification, ancestry studies and genealogies reconstruction. The Y-chromosome regions with forensic interest include the set of 16 loci defined in the Y-Chromosome Haplotype Reference Database. Nevertheless Y chromosome is connected to male infertility and microdeletions in it are the most common cause of genetic ori...


Analysis of NGM STR loci in South Portuguese Population

Ribeiro, Teresa; Dario, Paulo; Vital, Nádia; Sanches, Susana; Espinheira, Rosa; Geada, Helena; Costa Santos, Jorge

Allele frequencies and other relevant forensic parameters of 15 loci studied with Applied Biosystems AmpFlSTRs NGM Kit were calculated in a population of individuals residing in the South of Portugal. Blood stain samples were obtained from a total of 350 unrelated individuals involved in paternity testing casework. This new kit has five loci not present in any other kit used in our laboratory (Promega Powerplex...


Superfecundação heteropaterna na investigação de paternidade

Ribeiro, Teresa; Vieira Da Silva, Cláudia; Dario, Paulo; Geada, Helena; Espinheira, Rosa


Identificação genética a partir de lâminas

Ribeiro, Teresa; Vieira da Silva, Cláudia; Lucas, Isabel; Dario, Paulo; Geada, Helena; Espinheira, Rosa


vWA STR Locus - Structure and variability

Cruz, Carla; Vieira da Silva, Cláudia; Lucas, Isabel; Ribeiro, Teresa; Espinheira, Rosa; Geada, Helena

The biological individualization of samples is studied through DNA STR loci analysis and is the principal goal of Forensic Genetics. STR loci study was initiated in the 90s on the majority of Forensic Laboratories. vWA is one of the most studied STR loci all over the world. It is included in any STR set proposed by Forensic Groups as the 13 core loci of the CODIS System used in routine cases by most Forensic Ge...


Identification by mtDNA of exchanged human body remains

Cruz, Carla; Ribeiro, Teresa; Vieira - Silva, Cláudia; Lucas, Isabel; Geada, Helena; Espinheira, Rosa

MtDNA offers some advantages over genomic DNA markers for the identification of human remains. Its sequence is completely determined and the high copy number increases the chance to obtain mtDNA in cases of limited quantity or degraded autosomal DNA. The maternal mode of inheritance without recombination during the meiosis process allows maternal lineage identification by a simple direct comparison of the mtDNA...


Portuguese Population Study with 16 Y-STR Loci

Geada, Helena; Baptista, Joana; Felgueiras, Miguel; Vieira Da Silva, Cláudia; Cruz, Carla; Lucas, Isabel; Ribeiro, Teresa; Espinheira, Rosa

Although autosomal STRs are commonly used for forensic investigations, Y-chromosome STRs provide very useful information in paternity investigation cases without alleged father and investigation cases where paternal lineage identification can be assessed. The aim of this study is to present an extended 16 Y-STR Portuguese Population Database of 214 Southern Portugal individual samples for forensic purpose, incl...


Diversidade Genética na População de Macau em 15 Loci STRs

Cruz, Carla; Viriato, Luís; Vieira, Claudia; Ribeiro, Teresa; Espinheira, Rosa; Geada, Helena

Decorridos 450 anos de permanência de população portuguesa em território macaense, no dia 20 de Dezembro de 1999, teve lugar a transferência definitiva da soberania de Macau para a República Popular da China. Tendo como objectivo a caracterização genética de uma população originária e residente em Macau e posterior comparação com a população portuguesa, foi efectuado um estudo de um conjunto de 15 loci STRs, do...


A STR mutation in a heteropaternal twin case

Geada, Helena; Ribeiro, Teresa; Brito, Miguel; Espinheira, Rosa; Rolf, Burkhard; Hohoff, Carsten; Brinkmann, Bernd

A heteropaternal male twin case with two men being alleged fathers was investigated as requested by the Court. Up to 37 PCR-based polymorphic DNA systems were studied in this case which was complicated by a paternal ACTBP2 mutation detected in one twin. This is the first report on a STR mutation in a double paternity case where both biological fathers were indisputably identified. The STR systems enable the res...


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