Browsing by Author "Santos, J. Costa"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- Insertion/Delection Polymorphism and forensic aplications: A preliminary studyPublication . Vieira Da Silva, Cláudia; Matos, Sara; Amorim, António; Afonso Costa, Heloísa; Morais, Paulo; Santos, Rodolfo; Espinheira, Rosa; Santos, J. CostaThe human genetic identification is usually based on the study of STR markers, robust and reliable for samples containing relatively small quantities of DNA. Recent advances in forensic genetics have focused on the development of genotyping assays using shorter amplicons, in order to improve the successful amplification of degraded samples. Single Nucleotide Polymorphisms (SNP) and Insertion/Deletion polymorphisms (INDEL), length polymorphisms created by insertions or deletions of one or more nucleotides in the genome, have considerable potential in this kind of forensic samples, usually present in identification casework, since they can combine desirable characteristics of both, STR and SNP. In this study, a set of 30 biallelic Deletion/Insertion polymorphisms (DIP or INDEL) distributed over 19 autosomes plus Amelogenin in a single multiplex PCR reaction was applied to 100 healthy and unrelated caucasian individuals. Statistical analysis revealed that the 30 biallelic markers can provide satisfactory levels of informativeness for forensic demands.
- Usefulness of the Powerplex1 Fusion System as typing methodology for CODIS and ESS genetic markers in an immigrant population from Cabo Verde in LisboaPublication . Resende, A.; Amorim, A.; Silva, C. Vieira da; Ribeiro, T.; Porto, M. J.; Santos, J. Costa; Costa, H. Afonso"Cabo Verde is located on the West African coast, was discovered uninhabited by Portuguese explorers, colonized by European and African slaves and is culturally characterized by a mixture of their settlers. Cabo Verde is one of the countries with the highest number of emigrants living in Portugal. In order to validate the genetic markers included in the Combined DNA Index System and in the European Standard Set, samples from 500 unrelated individuals from Cabo Verde, currently living in Lisboa, were studied with the PowerPlex® Fusion System. To implement the genotyping method at the Serviço de Genética e Biologia Forenses (SGBF) we determined the minimum final volume of the PCR reaction, the proper number of PCR cycles and the minimum DNA concentration to obtain a complete genetic profile. Stutter identification and its proportion and allelic imbalance within markers were also determined. Results were compared with genetic profiles obtained by the current PCR kits used in SGBF routine testing verifying concordance between common loci. There were no off-ladder alleles detected and it was possible to type microvariants which were not present in the allelic ladders of other PCR kits. PowerPlex® Fusion System allows for the simultaneous characterization of Combined DNA Index System and in the European Standard Set genetic markers, in an economically way, with greater sensitivity and solid results."