Augusto Abade
Biographic Data
| ID | 742671 |
|---|---|
| NAME | Augusto Abade |
| GIVEN NAMES | Augusto |
| FAMILY NAME | Abade |
| SIGNATURE | ABADE A |
| AFFILIATIONS | University of Coimbra |
| VERIFIED | No |
| TOTAL WORKS | 16 |
| TOTAL CITATIONS | 13 |
| AUTHOR COUNT | 16 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 1986 |
| LATEST PUBLICATION YEAR | 2013 |
| H-INDEX | 2 |
Y -chromosome diversity in central Portugal reveals signatures of ancient maritime expansions
The genetic diversity of human populations in Portugal results from several different demographic events that occurred in distinct prehistorical and historical periods. The main objective of this study was to examine if patterns of Y-chromosome diversity explained by ancient maritime Mediterranean expansions can be observed in Coimbra district (central-west region of Portugal). A total of 125 male DNA samples were typed for 16 Y-SNPs and eight Y-…
Allele frequencies of 6 STR loci (TH01, TPOX, CSF1PO, D13S317, D16S539 and D7S820) in São Tomé e Príncipe (West Africa)
Allele frequencies of six autosomal short tandem repeat (STR) markers \n(TH01, TPOX, CSF1PO, D13S317, D7S820 and D16S539) were estimated in a \npopulation sample (N=53-85) of unrelated individuals from São Tomé e Principe \n(West Africa). No deviations from Hardy-Weinberg equilibrium were observed for \nall loci. Allele frequency distribution and heterozygosity values were similar with \nthose from other sub-Saharan African populations
Testing Hierarchical Levels of Population Sub-Structuring: The Azores Islands (Portugal) as a Case Study
The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). Using the father’s surname of 187,398 individuals living on the nine Azorean Islands, a population analysis based on inter-island relationship and hierarchical organization was conducted. The relation…
Estudo populacional de 6 STRs (TH01, TPOX, CSF1PO, D7S820, D13S317 e D16S539) na região Centro de Portugal
As frequências alélicas de 6 STRs autossómicos (TH01, TPOX, CSF1PO, \nD7S820, D13S317 e D16S539), correntemente utilizados em estudos forenses, foram \nestimadas numa amostra de indivíduos não aparentados naturais da região Centro \nde Portugal (N=70-104). Não se verificaram desvios significativos ao equilíbrio de \nHardy-Weinberg para os marcadores estudados. Os resultados foram comparados \ncom os obtidos em estudos realizados noutras regiões d…
G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
A population sample from São Tomé e Príncipe (West Africa) was screened for the G6PD-deficient variants A- (376G/202A), Betica (376G/968C), and Santa Maria (376G/542T). G6PD locus haplotype diversity was also investigated using six intragenic RFLPs (FokI, PvuII, BspHI, PstI, BclI, NlaIII) and a (CTT)n microsatellite 18.61 kb within the G6PD locus. The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A- al…
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Natural Selection at the MJD Locus: Phenotypic Diversity, Survival and Fertility Among Machado-Joseph Disease Patients From the Azores
Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed (clinical types 1, 2 and 3). Type …
Polimorfismos genéticos de ESD, GLO1, GPT e PGM1 em São Tomé e Príncipe
The distribution of phenotypes of the red cell esterase D (ESD), glyoxalase 1 (GLO1), glutamate pyruvate transaminase (GPT) and phosphoglucomutase 1 (PGM1) were analysed by starch gel electrophoresis in unrelated native-born residents in Sao Tome and Principe, for the purpose of genetic characterization of this population. The allele frequencies found were: ESD* = 0.929, ESD*2 = 0.071 (N =145); GLO 1 *1= 0.347, GLO1 *2 = 0.653 (N = 154); GPT*1=0.…
Genética populacional de três polimorfismos intragénicos do gene da doença de Machado-Joseph (MJD1) na Região Centro de Portugal e nos Açores
Res_por:Neste trabalho procedemos ao estudo de tres polimorfismos intragenicos do gene da doenca de Machado-Joseph (669A/G; 987C/G e 1118A/C) em duas amostras populacionais de individuos saudaveis nao aparentados e nao pertencentes a familias MJD, das regioes Centro de Portugal e Acores. As frequencias alelicas encontradas nao diferem das publicadas para outras populacoes de origem Europeia. Foram encontrados os haplotipos comuns G-G-C e A-C-A, c…
Distribution of AMY2 polymorphism in S. Tomé and Príncipe (West Africa)
The genetic polymorphism of AMY2 was studied in the population of S. Tomé and Príncipe (West Africa) using agarose gel electrophoresis. AMY2 frequencies are reported for the first time in a subSaharian population. The gene frequencies found were: AMY2*1=0.948, AMY2*3=0.052 (N=173)
Birth, Marriage and Death in Illegitimacy: A Study in Northern Portugal
Birth, marriage and death in illegitimacy: A study in northern Portugal
In populations in which the frequency of illegitimacy is high, illegitimates and legitimates may be subjected to different demographic and social pressures, with social and genetic consequences. A rural population from north-east Portugal is studied and variables from birth, marriage and death records are compared according to the legitimacy of the individuals. The analysis shows important differential demographic patterns in infant and child mor…
Influence of industrialisation on marital behaviour in Beduído (Estarreja), Portugal
From marriage records of a Northern Portuguese parish for 1900–80, endogamy and exogamy rates were calculated for birthplace and residence in order to analyse the effect of industrialisation on the population structure after 1940. Marriages that were endogamous relative to birthplace decreased between 1940–49 (58·9%) and 1988 (20·5%), while exogamy increased. Exogamous marriages in which people came from outside the municipality (51·92%) were gre…
Genetic structure of the Azores: Marriage and inbreeding in Flores
Flores is one of the smallest and most westerly islands of the Atlantic archipelago of the Azores. This preliminary account of the population's demography and genetic structure uses dispensations to contract consanguineous marriages taken from the Roman Catholic marriage registers in order to estimate mean inbreeding rates in the population over the period 1860-1980. Comparisons are made with inbreeding rates on the Portuguese mainland and elsewh…
Inbreeding as measured by dispensations and isonymy in Rio de Onor, Portugal
This study examines the coefficient of inbreeding in the population of Rio de Onor (Portugal), for a period of 120 years. Two distinct methods were used: the dispensations for consaguineous marriages and isonymy. The two methods produced different results and these differences are explained, for the period after 1960, in terms of emigration
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
Y -chromosome diversity in central Portugal reveals signatures of ancient maritime expansions
The genetic diversity of human populations in Portugal results from several different demographic events that occurred in distinct prehistorical and historical periods. The main objective of this study was to examine if patterns of Y-chromosome diversity explained by ancient maritime Mediterranean expansions can be observed in Coimbra district (central-west region of Portugal). A total of 125 male DNA samples were typed for 16 Y-SNPs and eight Y-…
Inbreeding as measured by dispensations and isonymy in Rio de Onor, Portugal
This study examines the coefficient of inbreeding in the population of Rio de Onor (Portugal), for a period of 120 years. Two distinct methods were used: the dispensations for consaguineous marriages and isonymy. The two methods produced different results and these differences are explained, for the period after 1960, in terms of emigration
Genetic structure of the Azores: Marriage and inbreeding in Flores
Flores is one of the smallest and most westerly islands of the Atlantic archipelago of the Azores. This preliminary account of the population's demography and genetic structure uses dispensations to contract consanguineous marriages taken from the Roman Catholic marriage registers in order to estimate mean inbreeding rates in the population over the period 1860-1980. Comparisons are made with inbreeding rates on the Portuguese mainland and elsewh…
Birth, marriage and death in illegitimacy: A study in northern Portugal
In populations in which the frequency of illegitimacy is high, illegitimates and legitimates may be subjected to different demographic and social pressures, with social and genetic consequences. A rural population from north-east Portugal is studied and variables from birth, marriage and death records are compared according to the legitimacy of the individuals. The analysis shows important differential demographic patterns in infant and child mor…
Influence of industrialisation on marital behaviour in Beduído (Estarreja), Portugal
From marriage records of a Northern Portuguese parish for 1900–80, endogamy and exogamy rates were calculated for birthplace and residence in order to analyse the effect of industrialisation on the population structure after 1940. Marriages that were endogamous relative to birthplace decreased between 1940–49 (58·9%) and 1988 (20·5%), while exogamy increased. Exogamous marriages in which people came from outside the municipality (51·92%) were gre…
Birth, Marriage and Death in Illegitimacy: A Study in Northern Portugal
Distribution of AMY2 polymorphism in S. Tomé and Príncipe (West Africa)
The genetic polymorphism of AMY2 was studied in the population of S. Tomé and Príncipe (West Africa) using agarose gel electrophoresis. AMY2 frequencies are reported for the first time in a subSaharian population. The gene frequencies found were: AMY2*1=0.948, AMY2*3=0.052 (N=173)
Genética populacional de três polimorfismos intragénicos do gene da doença de Machado-Joseph (MJD1) na Região Centro de Portugal e nos Açores
Res_por:Neste trabalho procedemos ao estudo de tres polimorfismos intragenicos do gene da doenca de Machado-Joseph (669A/G; 987C/G e 1118A/C) em duas amostras populacionais de individuos saudaveis nao aparentados e nao pertencentes a familias MJD, das regioes Centro de Portugal e Acores. As frequencias alelicas encontradas nao diferem das publicadas para outras populacoes de origem Europeia. Foram encontrados os haplotipos comuns G-G-C e A-C-A, c…
Natural Selection at the MJD Locus: Phenotypic Diversity, Survival and Fertility Among Machado-Joseph Disease Patients From the Azores
Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed (clinical types 1, 2 and 3). Type …
Polimorfismos genéticos de ESD, GLO1, GPT e PGM1 em São Tomé e Príncipe
The distribution of phenotypes of the red cell esterase D (ESD), glyoxalase 1 (GLO1), glutamate pyruvate transaminase (GPT) and phosphoglucomutase 1 (PGM1) were analysed by starch gel electrophoresis in unrelated native-born residents in Sao Tome and Principe, for the purpose of genetic characterization of this population. The allele frequencies found were: ESD* = 0.929, ESD*2 = 0.071 (N =145); GLO 1 *1= 0.347, GLO1 *2 = 0.653 (N = 154); GPT*1=0.…
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
A population sample from São Tomé e Príncipe (West Africa) was screened for the G6PD-deficient variants A- (376G/202A), Betica (376G/968C), and Santa Maria (376G/542T). G6PD locus haplotype diversity was also investigated using six intragenic RFLPs (FokI, PvuII, BspHI, PstI, BclI, NlaIII) and a (CTT)n microsatellite 18.61 kb within the G6PD locus. The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A- al…
Testing Hierarchical Levels of Population Sub-Structuring: The Azores Islands (Portugal) as a Case Study
The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). Using the father’s surname of 187,398 individuals living on the nine Azorean Islands, a population analysis based on inter-island relationship and hierarchical organization was conducted. The relation…
Estudo populacional de 6 STRs (TH01, TPOX, CSF1PO, D7S820, D13S317 e D16S539) na região Centro de Portugal
As frequências alélicas de 6 STRs autossómicos (TH01, TPOX, CSF1PO, \nD7S820, D13S317 e D16S539), correntemente utilizados em estudos forenses, foram \nestimadas numa amostra de indivíduos não aparentados naturais da região Centro \nde Portugal (N=70-104). Não se verificaram desvios significativos ao equilíbrio de \nHardy-Weinberg para os marcadores estudados. Os resultados foram comparados \ncom os obtidos em estudos realizados noutras regiões d…
Allele frequencies of 6 STR loci (TH01, TPOX, CSF1PO, D13S317, D16S539 and D7S820) in São Tomé e Príncipe (West Africa)
Allele frequencies of six autosomal short tandem repeat (STR) markers \n(TH01, TPOX, CSF1PO, D13S317, D7S820 and D16S539) were estimated in a \npopulation sample (N=53-85) of unrelated individuals from São Tomé e Principe \n(West Africa). No deviations from Hardy-Weinberg equilibrium were observed for \nall loci. Allele frequency distribution and heterozygosity values were similar with \nthose from other sub-Saharan African populations
Y -chromosome diversity in central Portugal reveals signatures of ancient maritime expansions
The genetic diversity of human populations in Portugal results from several different demographic events that occurred in distinct prehistorical and historical periods. The main objective of this study was to examine if patterns of Y-chromosome diversity explained by ancient maritime Mediterranean expansions can be observed in Coimbra district (central-west region of Portugal). A total of 125 male DNA samples were typed for 16 Y-SNPs and eight Y-…
Biology (11 works) · Demography (11 works) · Population (11 works) · Geography (9 works) · Demography (6 works) · Forensic and Genetic Research (6 works) · Gene (6 works) · Genetic diversity and population structure (6 works) · Genetics (5 works) · Genetics (5 works)