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...
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...
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...
We have conducted studies to assess the variability of mtDNA and Y-chromosome markers in the Azores Islands (Portugal) and found that, for both genetic systems, the Azores, as a whole, fit well into the pattern of variation described for other Western European populations. Phylogeographic analysis of mitochondrial DNA (mtDNA) showed a major contribution from Mainland Portugal, as well as evidences of influxes f...
Sequence data from the hypervariable segments I (HVS-I) and II (HVS-II) was obtained for 30 Angolares, 35 Forros and 38 Tongas, three self-reported ethnic groups from São Tomé e Príncipe, an African archipelago (Gulf of Guinea) whose settlement begun in the late 15th century. The repertory of mtDNA lineages denoted a fully African maternal pool primarily arisen from a Central/Southwestern substratum. The absenc...
Background Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made...
IX Expedição Científica do Departamento de Biologia - Terceira 1994. ; A doença de Machado-Joseph (DMJ) é uma doença neurodegenerativa hereditária de início tardio e de transmissão autossómica dominante. Nos Açores a sua prevalência é de 1/2402, sendo conhecidas 34 famílias afectadas. Com o objectivo de compreender a origem do gene mutante nas ilhas Terceira e Graciosa, as genealogias ascendentes das famílias ...
VII Expedição Científica do Departamento de Biologia - São Jorge e Topo - 1992. ; During the 1992 Scientific Expedition to São Jorge, parish registers were consulted referring to some villages of the district of Velas, according to the following described: Baptisms (1875-1900)- Variables include date of birth, place of birth, legitimacy/illegitimacy (Velas; Santo Amaro). Marriages (1876-l900)- Variables includ...
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