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E Mamolini

Publications and source records attributed to E Mamolini.

At least 19 recordsLinked to original sources
PubMed2005

Surnames and dialects in France: population structure and cultural evolution.

To study the isonymy structure of France as related to local language variations, the surname distributions of 6.03 million telephone users registered for the year 2002 were analysed in the 21 conterminous regions, their 94 departments and in 809 towns of the Country. For regions and departments the differences among local dialects were quantified according to the dialecto-metrization of the Atlas Linguistique Français. We found that Lasker's distance between regions was correlated with geographic distance with r=0.692+/-0.040, while Euclidean (r=0.546+/-0.058) and Nei's (r=0.610+/-0.048) distances were less correlated. Slightly lower correlations were observed for departments. Also, dialectometric distance was correlated with geography (r=0.582+/-0.069 for regions and r=0.617+/-0.015 for departments). The correlations between Lasker and dialectometric matrix distances for regions and departments are r=0.625+/-0.046 and 0.544+/-0.014, respectively, indicating that the common cause generating surname and language diversity accounts for about 35% of the differentiation. Both Lasker and dialectometric distances identify very similar boundaries between Poitou, Centre, Bourgogne and Franche Comptée at the North, and Aquitaine, Limousin, Auvergne, Rhône-Alpes in the South. Average Fisher's alpha for France was 7877 the highest value observed for the European countries studied to date. The size of alpha in most French towns indicates considerable recent immigration.

Cultural Evolution↗
PubMed2005

Surnames in Argentina: a population study through isonymy.

In order to study the isonymic structure of Argentina, the surname distributions of 22.6 million electors registered for the year 2001 were analyzed in the 24 districts (distritos) and 541 municipalities (municipios) of the country. The number of different surnames found was 414,441. Matrices of isonymic distances between districts were constructed and tested for correlation with the geographic distance between the capital towns of the districts. We found that, for the whole of Argentina, Euclidean distance was correlated with the log of geographic distance (r=0.480+/- 0.067). A dendrogram of the 24 regions was built from the matrix of Euclidean distances, using the UPGMA method. The clusters identified by the dendrogram are coincident with conterminous geographical regions of the country. Random inbreeding calculated from isonymy, F(ST), was highest in La Rioja, Corrientes, and Santiago del Estero. It was lowest in the area of Buenos Aires and in the north-central region of Santa Fé. Average Fisher's alpha for municipalities was 358; for districts, it was 422; and for Argentina as a unit, it was 602. The geographical distribution of alpha in 541 municipalities, high in the east and lower in the west of the country, is compatible with the settlement in the 20th century of subsequent waves of immigrants moving from the North Atlantic coast toward the foot of the Andes and toward the south. The present structure of Argentina indicates that migration dominates over drift.

Argentina↗
PubMed2005

Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis.

Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13-14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P=0.019). We also observed some evidence for an association between GAP and the IL-1B(+3953) polymorphism (P=0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B(+3953) and IL-1B(-511) polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B(+3953) marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B(+3953)-IL-1B(-511) haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B(+3953) and IL-1B(-511) polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.

Case-Control Studies↗
PubMed2001

Isonymy structure of USA population.

The isonymy structure of the 48 states of the continental United States of America was studied using the surname distributions of 18 million telephone users, distributed in 247 towns. The shortest linear distance between nearest neighbor towns included in the sample was 12.0 km. The largest distance was 4,577 km. The number of different surnames found in the whole analysis was 899,585. Lasker's distance was found to be significantly but weakly correlated with the geographic distance, with r = 0.21 +/- 0.01. A dendrogram of the 48 states was built from the matrix of isonymy distances: it divides the US into several clusters, in general correlated with geography. A notable exception is California and New Jersey, which cluster together. Wisconsin is separated from all other states. An important cluster is formed by Texas, Colorado, New Mexico, Nevada, and Arizona, together with Illinois and Florida. It was observed that Hispanic surnames are among the most frequent in Illinois, as they are in New Jersey and California. No main distinction among the states clearly attributable to surnames of French origin was detected; however, New Hampshire, Vermont, and Maine which have a considerable number of these surnames belong to the same northeastern cluster. From the present analysis, the great mobility of the US population emerges clearly, and it seems relevant that the practical absence of isolation by distance is seen also considering only small towns. It appears that groups of different origin are well-mixed over the whole area of the United States. The values of isonymy indicate that the south-central area of the USA has the highest level of inbreeding. In fact, the heterogeneity in surname composition is greater in the coastal areas, particularly on the East Coast, than anywhere else in the USA.

Emigration and Immigration↗
PubMed2000

Allele and genotype frequencies for D1S80 and 3'APOB in Recanati, Central Italy.

The VNTR 3'APOB and D1S80 loci were studied in a sample of 179 individuals living in the Recanati Area (Central Italy). For 3'APOB, we found 34 genotypes and 11 alleles. The system was in Hardy-Weinberg equilibrium. The observed and expected heterozygosity were 0.788 and 0.798 respectively. The discrimination power was 0.96, the a-priori paternity exclusion power was 0.619 and the polymorphism information content was 0.773. For D1S80, we found 45 genotypes and 18 alleles. The system deviated significantly from Hardy-Weinberg equilibrium. The observed and expected heterozygosity were 0.696 and 0.790 respectively. The discrimination power was 0.96, the a-priori paternity exclusion power was 0.617 and PIC was 0.767. The Recanati sample was compared with the general Italian frequencies for the 3'APOB locus. A difference of borderline significance was detected (P = 0.04). For D1S80, the sample was compared with a sample from Southern Italy and no significant difference was detected.

Alleles↗
PubMed1999

Isonymy and isolation by distance in Italy.

The isonymy structure of Italy was studied using the surname distribution of 5,043,580 private telephone users selected from a 1996 commercial CD-ROM that contains all 24 million users in the country. The users were distributed in 123 towns selected on a geographic basis. The 123 towns were either on the main communication roads of the country or at the ends of such roads. The shortest distance between nearest neighbor towns was 5.3 km (Carrara and Massa), and the largest distance was 1,136 km (Aosta and Castrignano del Capo). The number of different surnames found in the whole analysis was 215,623. Lasker's distance, the negative value of the logarithm of random isonymy between localities, was linearly and significantly correlated with the logarithm of geographic distance, with r = 0.63 +/- 0.008. A dendrogram was built from the matrix of isonymy distances, using UPGMA. It separates the Italian towns into 5 main clusters: 1 in the southern portion of the country, a second cluster toward the center, and 3 in the northern area of Italy. Within each cluster small subclusters with specific geographic distributions could be related to regional borders. Comparisons with the results of a previous analysis of Switzerland and Germany's structures are given. From the present analysis isolation by distance emerges clearly, although it is less strong than in Switzerland and stronger than in Germany. The random component of inbreeding estimated from isonymy indicates that the southern area of Italy is on average more inbred than the northern area. In fact, the heterogeneity is greater in the northern area, particularly in the plain of the Po River, than anywhere else in Italy.

Cluster Analysis↗
PubMed1998

Isonymy and isolation by distance in Germany.

The isonymy structure of Germany was studied using the surname distributions of 5,150,310 private telephone users selected from 39,000,000 users registered in a 1996 commercial CD-ROM, which contains all telephone users in the country. The users were distributed in 106 towns selected on a geographic basis. Germany was subdivided into 50 adjacent rectangles, each 115 x 80 km, and at least the largest town in the rectangle was selected for study; the private telephone users in that district were downloaded from the CD-ROM and included in the analysis. The shortest distance between nearest neighbor towns was 10.7 km (Travemunde and Lübeck), and the largest distance was 69.8 km (Meppen and Osnabruck). The number of different surnames found in the whole analysis was 462,526. Lasker's distance, the negative value of the logarithm of isonymy between localities, was found to be linearly and significantly correlated with geographic distance (r = 0.51 +/- 0.010). A dendrogram was built with the matrix of isonymy distances, using UPGMA. This method separates the German towns into two main clusters, one in the southern half of the country and the other in the northern half. Within each cluster small subclusters with specific geographic distributions could be delimited. The two main clusters correspond fairly well to the north-south division of German sublanguages (Nieder- and Mitteldeutsch in the north vs. Frankisch-Alemannisch in the south). The other clusters are related to minor sublanguages. Comparisons with the results of a previous analysis of Switzerland's structure are given. From the present analysis isolation by distance emerges clearly, although it is less strong than in Switzerland and indicates that Germany has a fairly homogeneous isonymy structure. The random component of inbreeding estimated from isonymy indicates that eastern Germany is on average more inbred than western Germany.

CD-ROM↗
PubMed1993

Comparison of structures from frequencies of genes and surnames in the population of Ferrara.

The genetic structure based on isonymy and on gene frequencies of 7 enzyme systems was studied in a sample of 1361 individuals residing in the Ferrara Province in the Po delta (northern Italy). The sample was divided into two subsamples. The first, or indigenous, sample (n = 885) was composed of persons born and residing in the same commune of the province; the second, or migrant, sample (n = 476) was composed of persons who immigrated from a different commune. The study of the seven polymorphic genetic systems shows that there is no significant difference in gene and genotype frequencies between the two subsamples. On the other hand, the migration indicator derived from isonymy of family names is significantly larger in the migrant group than in the indigenous group. Isonymy techniques permit the detection of recent migration even under equality of gene frequencies.

Consanguinity↗
PubMed1992

Genetic structures in the Po Delta: principal components, systemic functions and the relative age of the beta-thalassemia polymorphism.

The principal component representations of the genetic structure of the human population of the Po Delta, obtained from 7 polymorphic loci, are compared with the representations obtained from the systemic function of gene frequencies devised by Womble 1951. It is noted that, when tridimensional representations are used, some consistency is visible in the results of the two methods for the description of the genetic population structure in the area under study. Both methods indicate that the present structure of the balanced polymorphism for beta-thalassemia in the area appears to be more recent than the structure of the neutral polymorphisms studied.

Alleles↗
PubMed1992

Genetic structures in the population of Veneto.

The genetic structures of the population residing in the provinces of Venice and Rovigo in the Veneto region at the north of the Po delta in Italy was studied in 1,210 individuals residing in 18 sampling areas, using the phenotype and gene frequencies of 7 red cell enzymes: acid phosphatase (ACP1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphoglucomutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardized variance and kinship profiles were used. It was found that the genetic differentiation within each province is low, and that only two systems, GPT and PGP, are significantly different between the two provinces. The samples studied seem to belong to a mainly homogeneous population.

Erythrocytes↗
PubMed1991

Kinship structures and migration in the Po Delta.

The kinship analysis of seven genetic systems in the province of Ferrara permits some considerations on the possible chronology of emergence of their polymorphisms in the area. It is proposed that, assuming neutrality of these systems, and under several restrictions, the emergence by migration of the polymorphisms in the seven systems ACP, ESD, GLO, GPT, PGD, PGM1, PGP might have had the following sequence: PGP and GLO and possibly PGD; PGM1 and GPT; ACP and ESD. All polymorphisms must be older than the beta-thalassemia polymorphism in the area.

Alleles↗
PubMed1989

Genetic structure of the human population in the Po delta.

The genetic structure of the population of Ferrara Province in the Po delta in Italy was investigated using chi 2 analysis, kinship analysis, analysis of correspondences, and geographical mapping of principal components of gene frequencies. chi 2 Analysis tests for Hardy-Weinberg equilibrium and for heterogeneity of gene and phenotype frequencies; kinship analysis tests for association between indicators of genetic and geographic proximity; analysis of correspondences relates localities and genetic systems in an eigenvectorial space; and geographic mapping displays the principal components of gene frequencies in the real space. In 1,364 adults in 26 residential units, seven presumably neutral isoenzyme systems were typed; ACP1 ESD, GLO I, GPT, PGD, PGM1 and PGP. It was found that average kinship for these neutral systems is correlated with geographic distance in this small area, but not as strongly as kinship for beta-thalassemia. A north-south gradient was observed for ESD. Analysis of correspondences indicated GPT, PGM1, and GLO I as the systems contributing most to differentiation within the province. The maps obtained from principal components of gene frequencies were consistent with the migrational history of the area.

Adult↗
PubMed1988

Distribution of enzyme polymorphisms in six Sicilian communes.

The relations between seven genetic systems in six Sicilian communes (a commune is the smallest unit in the Italian administrative system) were explored in a sample of 719 young adults. It was found that there is some correspondence between geographic location and genetic differentiation, through kinship analysis and correspondence analysis. A probable bottleneck or mutation effect was observed in the commune of Vizzini, in Southeastern Sicily, which is characterized by a polymorphic frequency of the allele H of 6PGD.

Adult↗
PubMedDate not supplied

Elements of the surname structure of Austria.

The isonymy structure of Austria was studied using the surname distributions in 1081002 private telephone users selected from about 4000000 registered in a 1996 commercial CD-ROM, which contains all Austrian users. The sample was distributed in 120 towns representing an approximately uniform distribution over the country. The number of different surnames found in the whole analysis was 140766. Lasker's distance, the negative value of the logarithm of isonymy between localities, was found to be linearly and significantly correlated with the log of geographic distance, with r = 0.565 +/- 0.011. A dendrogram was built with the matrix of isonymy distance, using the Unweighted Pair-Group Method using Arithmetic averages, UPGMA. It separates the Austrian towns in five main clusters, one along the central portion of the country, another one which occupies the northern region of central Austria; then comes a third cluster at the north-eastern part, a fourth cluster in the western region, and finally a small cluster towards the border with Slovenia. Within each, small subclusters with specific geographic distributions could be delimited. The main clusters correspond fairly well to the classic regions of Austria. The results were compared with those obtained in similar analyses of Switzerland, Germany, Italy and Venezuela. From the present analysis, isolation by distance emerges clearly, and it is stronger than in Germany but smaller than that observed in Italy, Switzerland and Venezuela. The random component of inbreeding estimated from isonymy, at the level of resolution used here, indicates that the inbreeding level in Austria is rather uniform.

Austria↗
PubMedDate not supplied

Microevolution in Ferrara: isonymy 1890-1990.

The distribution of surnames in the population of the town of Ferrara, as it existed in the memory banks of the Municipality Computer in June 1990, was studied by sex, age and place of birth of residents. Random isonymy was studied separately in persons born before 1901, and in persons born in the nine decades thereafter, ending with the period 1981-90. Isonymy was higher in the older age groups studied. Also other indicators of the abundance of surnames in the distribution, the common ecological indexes derived from entropy, were calculated and compared between age groups. It was found that redundancy, as isonymy, is larger in older age classes than in younger classes. Surname effective number was defined as the inverse of isonymy corrected for sample size, and it was observed that it is practically identical with Fisher's alpha. It was then possible to separate random isonymy into two components, so that for sample size N its formulation becomes Ir = 1/alpha + 1/N It was found that in Ferrara alpha increased significantly in time, indicating enrichment of surnames in the population in the century 1890-1990.

Age Factors↗
PubMedDate not supplied

Microevolution in Perugia: isonymy 1890-1990.

The distribution of surnames in the population of the Comune of Perugia, as it existed in the memory banks of the Municipality Computer in autumn 1991, was studied by age and place of birth. Fisher's alpha and Karlin-McGregor's v were estimated in the total population, in persons born before 1901, and in persons born in the nine decades thereafter, ending with the period 1981-1991, for immigrants and for natives of Perugia, respectively. The wealth of surnames was significantly higher in immigrants than in natives of Perugia, as detected by alpha, v and by the log-log regression of the corresponding distributions. Among residents born in Perugia, Fisher's alpha shows a minimum value during 1921-1930, explained as a consequence of the First World War. The relationship between all possible combinations of cohorts born in the 10 different decades was studied through the Euclidean distance and through Lasker's coefficient of relationship, and a significant correlation between the former and time was revealed, both in immigrants and in natives of Perugia. When compared with the Province of Ferrara, Perugia was far richer in surnames, as measured by Fisher's alpha, for the total population and for each of the 10 decades analysed. Recent immigration, measured by Karlin-McGregor's v, was significantly higher in Perugia until the 1960s, equal in both Provinces during the 1970s, and higher in Ferrara during the 1980s.

Adolescent↗
PubMedDate not supplied

Isonymy and the genetic structure of Switzerland. I. The distributions of surnames.

The surname distribution of the population of Switzerland was studied using a sample of 1,702,000 private users registered for the year 1994 in the Helvetic Telephone Directory. These users were distributed in four linguistic areas, in 26 Cantons and 271 Communes of the Confederation. Estimates of unbiased random isonymy, of Fisher's alpha, an indicator of abundance of surnames converging to the allele effective number in standard genetic polymorphisms, and of Karlin-McGregor's v, an indicator of immigration rates, were calculated for each Commune, each Canton, each linguistic area and for the whole Confederation. The Commune with the highest value of alpha was Geneva (alpha = 5312) followed by Versoix (3713) and by the Communes of Vaud on the north shore of Lake Leman, Chavannes (3381), Montreux (3200), Nyon (3114) and Lausanne (3109). The Italian-speaking Communes of the Ticino were next. The lowest value (alpha = 29) was observed in Poschiavo, south of the Berninapass; alpha = 39 was observed in Einsiedeln (Schwyz); then Mels and Widnau (62 and 67, Canton of St Gallen), Frutingen in Bern (72), and Appenzell (80). Accordingly, the highest consanguinity values were observed in the Grisons and in the nucleus of the founding Cantons, while the lowest were observed in the Cantons of Geneva and Vaud, preferential areas of immigration to Switzerland from abroad. The effect of subdivision on isonymy is large at the Commune level, and decreases in Cantons and linguistic groups. French and Italian languages indicate minor, German and Romanisch major inbreeding.

Data Collection↗