4 documents found, page 1 of 1
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...
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...
Preliminary findings from the follow-up of pregnant sickle cell disease patient...
Brito, Miguel; Ginete, Catarina; Ferreira, J.; Delgadinho, Mariana; Sebastião, Cruz; Mateus, A.; Mendes, M.; Quinto, F.; Simão, F.; Fernandes, F.Background: In Angola, the prevalence of Sickle Cell Disease (SCD) is almost 2%, and the carriers reach 21% of the population. Although its presentation tends to be very heterogeneous, chronic hemolytic anemia, frequent painful crises, and extensive organ damage are common features of these patients. Pregnancy in SCD patients is associated with an increase in severe outcomes, namely, a high risk of eclampsia an...
Variabilidade da quantidade de ADN em zaragatoas bucais –estudo preliminar
Lucas, Isabel; Oliveira, Rita; Dourado, Catarina; Dario, Paulo; Reis, R.; Vieira Da Silva, Cláudia; Amorim, António; Afonso Costa, Heloísa; Simão, F.Os laboratórios de Genética Forense têm como objetivo a obtenção de perfis genéticos com vista à identificação humana, para a resolução de perícias do âmbito cível e criminal. Com vista à obtenção dos perfis genéticos dos indivíduos, é necessário efetuar colheitas de amostras biológicas dos mesmos, denominadas por amostras de referência. As mais comummente usadas são as obtidas por descamação do epitélio da muc...