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Avaliação da Obesidade e Obesidade Abdominal em Crianças Portuguesas

Introdução: A obesidade infantil tornou-se um grave problema de saúde pública nos países desenvolvidos, que frequentemente transita para a vida adulta. Este estudo teve como objetivo avaliar a prevalência da obesidade e a distribuição da gordura abdominal em crianças Portuguesas dos 6 aos 12 anos de idade provenientes da região centro de Portugal, fornecendo novos dados acerca da epidemiologia, prevalência e te...

Allele frequencies of 6 STR loci (TH01, TPOX, CSF1PO, D13S317, D16S539 and D7S8...

Allele frequencies of six autosomal short tandem repeat (STR) markers (TH01, TPOX, CSF1PO, D13S317, D7S820 and D16S539) were estimated in a population sample (N=53-85) of unrelated individuals from São Tomé e Principe (West Africa). No deviations from Hardy-Weinberg equilibrium were observed for all loci. Allele frequency distribution and heterozygosity values were similar with those from other sub-Saharan Afri...

Anthropology and health: trends for the next decade: program - abstracts book

Analysis of TPI gene promoter variation in three sub-Saharan Africa population ...

Population samples from Angola, Mozambique, and S. Tomé e Príncipe were screened for the TPI gene promoter variants -5ArarrG, -8GrarrA and -24TrarrG. Three haplotypes were identified in the three populations: the haplotype -5A-8G-24T (average frequency 65.3%) and two less common haplotypes -5G-8G-24T (average frequency 24.7%) and -5G-8A-24T (average frequency 10.0%). A population sample from Central Portugal sh...

Estudo populacional de 6 STRs (TH01, TPOX, CSF1PO, D7S820, D13S317 e D16S539) n...

As frequências alélicas de 6 STRs autossómicos (TH01, TPOX, CSF1PO, D7S820, D13S317 e D16S539), correntemente utilizados em estudos forenses, foram estimadas numa amostra de indivíduos não aparentados naturais da região Centro de Portugal (N=70-104). Não se verificaram desvios significativos ao equilíbrio de Hardy-Weinberg para os marcadores estudados. Os resultados foram comparados com os obtidos em estudos re...

Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: ...

G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/ PstI/BclI/NlaIII) and a (CTT)n microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-376G/202A variants (44/45) have a single haplotype (+/+/–/+/–/+/195). G6PD Betica376G/968C alleles (n=10) have a single RFLP haplotype (+/–/–/+/–/+) and 4 different (CTT)n repeats. Age estimate...

Molecular characterization of five Portuguese patients with pyrimidine 5’-nucle...

Four different gene mutations were identified in five unrelated Portuguese patients with pyrimidine 5’-nucleotidase type I (P5’N-I) deficient chronic hemolytic anemia. Mutations 502G®C (168 Gly®Arg), 773T®C (258Ile®Thr) and the insertion of an Alu element in exon 9, leading to skipping of this exon in the mRNA transcript, are newly described mutations whereas mutation 425T®C (142Leu®Pro) has been previously rep...

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein sur...