Population genetics of red cell and serum markers in the four Albanian communities of Molise, Italy

In this paper phenotype and gene frequencies of ten genetic markers (AK, AP, EsD, 6-PGD, PGM1, PGM2, Hb, Alb, Cp and Hp) of the four Albanian communities (Campomarino, Montecilfone, Portocannone and Ururi) living in Molise are reported. The gene frequencies show a high variability. The heterogeneity analysis among these villages could demonstrate significant differences between Campomarino and Montecilfone and between Campomarino and Ururi. It is interesting to note that the demographic analysis has shown the highest rate of immigration and the lowest percentages of endogamy, Albanian surnames and Albanian-speaking individuals in Campomarino. Against that Montecilfone and Ururi are showing opposite values for the same parameters. The genetic data are also indicating some differences between these Albanian communities and the Italian population. A comparison with the present population of Albany is not possible because of the lack of data.     

Isonymy and the genetic structure of Albanian populations

It is well known that in systems of surname transmission through the paternal line, surnames simulate neutral gene alleles belonging to the Y chromosome. This property of surnames was used to analyze the genetic structure of Albanian populations. Two large samples of surnames belonging to two different periods of time were analyzed. The analysis of indicators of population structure showed that geographical distance has an important effect on surname distribution. It seems that isolation by distance and genetic drift have been still important factors in the determination of the genetic structure of the Albanian population.     

Class endogamy, inbreeding and migration during the Argentinean colonial period: analysis based on individuals of European ancestry

During the Spanish colonial period, Córdoba was an important town due to its location suitable for controlling communication throughout a wide region of Argentina. As a typical colonial society, where individuals belonged to a well established social class, marriages among Whites were the result of strict norms and prejudices founded on nets of kinship, friendship and neighbouring. The objective of this paper is to determine, whether the elevated class endogamy among Whites during the colonial period resulted in high consanguinity and whether a process of selection of surnames was present in 1813. In both cases the interaction with the migratory flow was taken into account. It is concluded that (a) Although an endogamy of "class" existed among Whites, there is no evidence of the consequences on the biological structure of the population through preferential mating between relatives, as deduced from the low level of inbreeding from isonymy. (b) There was no differential reproduction reflecting the selection of families carrying certain surnames; therefore surnames followed a "neutral" model. (c) The diversity of surnames and the gene flow deduced from them were of a magnitude similar to present populations; this fact could have balanced the effect of the "class" endogamy. (d) Finally, the congruence between information derived from the population age distribution and historic data and the quantification of migration from surnames allowed the detection of mistakes in the census data file regarding the number of foreigners, thus validating the use of surnames as biological markers of the population structure.     

Mitochondrial DNA polymorphisms in the Albanian population of Calabria (Southern Italy)

RFLPs of mtDNA for HpaI, BamHI, HaeII, MspI, AvaII and HincII were analyzed in 100 individuals from 15 Albanian villages of the Cosenza province (Calabria, Southern Italy). Thirteen mtDNA types were identified, one of which is new and is due to an AvaII morph (AvaII 27^Alb) never described before. Other two types (15-2 and 40-2) previously unfound in Italians were detected in one and two individuals respectively. The intra-group homogeneity (F=.49) resulted to be the highest found among the Italian groups examined so far. It is however very similar to that of a control sample of the Calabria population (F=.46). On the whole no important differences have emerged in the comparison between Albanians and not Albanians from Calabria. These results can indicate either that the markers we examined are not discriminative or that genetic admixture has occurred at least by immigration of Calabrian women into the Albanian group.     

Repetition of the same pairs of names in marriages in Fogo Island,Newfoundland, and genetic variation

Surnames can be used to investigate the genetic structure of human populations. The repeated-pairs approach (RP) uses information on the repetition of the same pairs of names from marital data sets to indicate the influence of clanlike behavior on mate choice. RP estimates the subdivision of the population into subgroups that breed among themselves and the kind of inbreeding ascribed to the Wahlund effect. The application of this method to the Fogo Island, Newfoundland, data set indicates a large percentage excess of observed over random repetitions. Presumably at least a part of this excess in the island population is due to denominational subdivision and endogamy. The expected relationship between RP and heterozygosity is observed in this case. Given these results, it would seem worthwhile to explore the relationship between the frequency of repetitions of pairs of surnames in marriages and genetic variation in other populations as well and, at the same time, to begin to inquire into the validity of such assumptions concerning the use of surnames as the monophyletic origin of common names.     

Biodemographic and molecular analysis of an isolated Alpine population (Postua)

Isolated populations have been the object of several genetic and anthropological studies, since endogamy and inbreeding often lead to the acquisition of a particular gene pool. In this context, we studied the small, ancient population of Postua in the north-western Italian Alps. We used biodemographic and molecular techniques to analyse the population structure in order to evaluate the relationship between geographical and genetic isolation. We examined about 26,000 certificates kept in the town and parish archives, concerning the period from 1640 to 1999. High rates of endogamy and isonymy, short marriage distances and a low ratio between the number of surnames and the number of individuals were inferred. In the molecular analysis, we compared the distribution of Y chromosome SNPs (single nucleotide polymorphisms) with those of mitochondrial variations and Y chromosomal microsatellites (short tandem repeat polymorphisms) in 102 healthy individuals originating from Postua. A control sample (94 individuals) was collected from a plain area, 50 km away. We examined 23 SNPs and an Alu repeat, located in the nonrecombinant portion of the Y chromosome. To further delineate Y chromosome lineages, the biallelic haplogroups were further resolved using Y microsatellite markers (DYS19, DYS391, DYS392, DYS393). Mitochondrial HVS-I and HVS-II regions were sequenced, and RFLP screening with the six classical enzymes was performed. Postua is similar to other populations living in northern Italy, but it shows a lower number of haplotypes. The samples were compared with other European populations. We calculated genetic distances according to Reynold and Nei and we carried out a phylogenetic analysis by phylogenetic trees and reduced median networks construction. Postua clusters with other samples from northern Italy but in a separate position, probably indicating drift phenomena. These relationships are supported by AMOVA (analysis of molecular variance). Our results suggest that the influence of neighbouring populations on the gene pool of Postua has been very low through both females and males.     

Surname analysis of the Corsican population reveals an agreement with geographical and linguistic structure

The surname is a cultural trait that is extremely useful for historical and linguistic studies and can effectively be used as a genetic marker. In many human populations the surname is inherited in the paternal lineage, and can therefore be considered a marker for the Y chromosome. In this study, surnames were recorded from the white pages of telephone directories in current use in Corsica in 1993. All surnames present in thirteen villages scattered over the whole island and covering the main historical regions were transcribed. Surname variability was found to be higher in coastal villages, and lower in more isolated communities. The isonymy detected among the thirteen villages allowed the calculation of kinship values, visualized in a tree showing two main clusters, one referring to the northern villages and one encompassing the villages of the south. The pattern reflects the administrative division of the island, with the exception of Vico, which belongs to the southern administrative region but is geographically close to the northern villages, and Ghisoni, which belongs to the northern district but is more similar to the village of Bastelica in the southern district. The data presented here show a structure in the surname distribution that is in substantial agreement with the geographical patterns. The kinship values are consistent with a moderated gene flow among villages producing a surname structure according to the geographic features of the territory.     

The ethnic minorities of southern Italy and Sicily: relationships through surnames

Surnames of grandparents were collected from children in the primary schools of the Albanian-Italian, Croat-Italian and Greek-Italian villages of southern Italy and Sicily. The coefficients of relationships by isonymy show almost no relationship with ethnicity. Ethnolinguistic minorities of southern Italy and Sicily are geographically subdivided into two main clusters: the first cluster comprises the Albanian, Croat and Greek communities of the Adriatic area; and the second cluster comprises the Albanian and Greek communities of the Ionian, Thirrenian and Sicilian areas.     

Isolation and marriage patterns in four South Tyrolean villages (Italy) during the nineteenth century

No information is currently available on the marriage patterns of German-speaking communities of the South Tyrol area. The aim of this study is to investigate the reproductive isolation of four South Tyrolean mountain villages during the 19th century. Data about 3953 marriages were drawn from existing pedigrees and completed with data from the parish registers of the studied villages to calculate the following indicators: age at marriage, endogamy, inbreeding from dispensations and from isonymy and repeated pairs of surnames among couples. The results show high levels of endogamy (78-87%) and an elevated age at marriage in all the studied villages. The percentages of consanguineous marriages (10-33%) vary considerably but result overall in relatively low inbreeding values (alpha 0.0015-0.0036; Ft 0.0098-0.0138). Levels of endogamy are consistent with the geographic characteristics of the area, while inbreeding values are lower than those observed in previous studies on Alpine communities. This is due to a low frequency of marriages between close relatives, probably related to the peculiar demographic and cultural characteristics of the studied populations that differentiate them from neighbouring Italian-speaking villages.     

Temporal trends in marital structure and isonymy in S. Paolo Albanese, Italy

In the fifteenth century, after the Turkish conquest of the Balkan area, Albanian communities migrated to Southern Italy. I investigated temporal trends in isolation from 1820 to 1982 in one of these communities, the population of S. Paolo Albanese, Basilicata, which still uses the original language and religious rites. Marital structure is characterized by a high average frequency of village endogamy (75.2%). Among the exogamous marriages there is a preference for mates from Italo-Albanian settlements, with higher values in the 1800s. The distribution of marital distances reflects the positive assortative mating by ethnic community. The mean frequency of isonymous marriages was 9.01% from 1820 to 1982. These results indicate that total inbreeding from isonymy is a reliable indicator of isolation, showing temporal trends related to changes in endogamy. Fr accounts for the greater percentage of Ft in relation to the small population size and regularly decreases with time. The breakdown of isolation, as documented by the decrease in population size, endogamy, and inbreeding, is a recent feature (since 1960).     

Becoming Italian,becoming American: ethnic affinity as a strategy of boundary making

Based on the case study of Albanian immigrant incorporation in a Little Italy in the Bronx, this paper develops the concept of ethnic affinity. It argues that boundary-work between ethnic Italians and Albanian immigrants resulted in intergroup relations that coupled Albanian occupational incorporation with the (re)construction of respective group identities as culturally similar – and distinct from Latino and African-American groups in the neighbourhood. Engaging recent literature on ethnic boundary making, I argue that ethnic affinity constitutes a new strategy of boundary reinforcing, in addition to established strategies of boundary crossing, blurring, and shifting (Zolberg and Woon 1999; Wimmer 2008). Developed in the context of shifting ethno-racial neighbourhood makeup, this affinity between ethnic Italians and Albanian immigrants relied on American constructions of shared European whiteness, overturning contemporary divides between Italians and Albanians in Europe. Ethnic affinity provides a conceptual framework that goes beyond notions of ethnic succession, passing, or assimilation.     

Genetic characterization of the historical Albanian ethnic minority of Calabria (southern Italy)

Three historical ethnic minorities are present in Calabria: Albanians, Greeks, and Occitans. The Albanian ethnic minority is the more populous, having settled in Calabria between the 15th and 17th centuries, and these populations are now located in the provinces of Cosenza and Catanzaro. In the present study the Albanian population structure is analyzed based on the allele frequencies of six classic genetic markers: ACP, GC, PGM1, AK, ADA, and 6PGD. The results show a significant heterogeneity between the Albanian population in Calabria and the population in Molise. Therefore the cultural and reproductive isolation of the Albanian ethnic minority of Calabria is related to a great genetic peculiarity. Moreover, the frequencies of some alleles, particularly those of the PGM*1W31 variant, and the analysis of the R matrix still show the actual peculiar genetic structure of the Albanians of Calabria, although the genetic flow is evident in the decrease of endogamy and in the increase in the degree of mixing.     

Ethnicity and biodemographic structure in the Arbëreshe of the province of Cosenza, southern Italy, in the XIX century

Cultural and environmental factors interact in determining the genetic structure of human populations. Bio-demographic investigations of ethnic minorities are able to disentangle the influences that these two components have on the evolution of the genetic structure of a population. The ethnic minority of the Arb?reshe of the province of Cosenza (Calabria, southern Italy) is analyzed in this paper and its bio-demographic structure in the early 1800s is compared with that of neighboring Italian populations. The data derive from surnames recorded in the birth registers of the 19 Arbdreshe municipalities of the province of Cosenza and in 5 non-Arb?reshe municipalities of the same province. Isonymy and repeated pairs of surnames are used to analyze the bio-demographic structure of these populations, while analysis of isonymic relationships is used to investigate the variability between populations. Higher values of marital isonymy and subdivision into subpopulations characterize the Arb?reshe populations with respect to their non-Arb?reshe neighbors. However, the high range of variability of these parameters suggests a strong influence of geographic location on the marriage pattern of each community. At the same time, cultural differences linked to group identity had a strong impact in limiting marriage exchanges between the different ethnic groups living in the province of Cosenza in the early 1800s. In fact, the analysis of isonymic relationships demonstrates that geographic location shaped kinship patterns among the Arbereshe communities, but it also shows that the non-Arb?reshe neighbors formed a clearly separate reproductive cluster.     

Surnames in the Study of Human Biology

Use of surname analysis in human population biology depends on surnames being inherited like genes. In societies that meet this condition, communities with a few surnames at high frequency are the more inbred ones, and marriages between persons of the same surname can be used to estimate rates of inbreeding. Furthermore, the degree of commonality of the surnames of two communities estimates their biological relationship provided that any two persons of the same surname derived it from a common ancestor and that virilocal and uxorilocal migration is equal. Although the assumptions are only partially met, the surname method yields results which correlate with the amount of marital migration and with geographical and historical features. Rare surnames meet the assumptions better than common ones. Documents, both old and new, yield surnames of large numbers of people which can easily be analyzed to show the cumulative effect of marital migration since the establishment of surnames (in England in the Middle Ages). Surnames thus serve to delineate the breeding structure of some human populations over a longer span of time than is usually possible with pedigrees, over a more definite span of time than in genetic studies, and more easily in broad surveys than alternative methods . [isonymy, surnames, inbreeding, coefficient of relationship, England]     

Demographic structure and microevolution of an Italian alpine isolated population

The isonymic method has been generally accepted in population genetic studies and surnames have been successfully used to investigate human populations as if they were genetic markers associated to the Y chromosome. In this study we analysed the microevolution dynamics of Postua, a mountain village of North Western Italy, by means of demographic methods. The uniqueness of this community is due to its past geographical and cultural isolation and to the high frequency of marriage between relatives. During the study period considered (1640–1989) the population underwent several fluctuations in size and other demographic parameters such as the endogamy, isonimy and consanguinity rates. Until the first half of the XIX century Postua appears to be a village characterised by a closed and isolated community, with high endogamy (80–90%) and isonimy (up to 34.4%). Only at the beginning of the XX century, when the population started to be subjected to significant immigration fluxes, data show a progressive reduction of the isolation. The population showed two demographic peaks, the first around the second half of the XVIII century (1639 inhabitants) and the second at the end of the XIX century (1464 inhabitants). The S/N ratio was low (0.2–0.3) and relatively constant until the beginning of the last century, and only in the last three decades of the XX century, when the population was subjected to immigration, Postua showed a significant increase in the S/N ratio values (to about 0.9). The surname frequency was constant until the 1850 when almost all surnames were the same as those already present in the XVII century. From the first half of the XIX century, the founder surnames decreased, whereas new surnames started to increase and became persistent in the population.     

Relationships among given names in the Scilly Isles

The pseudo-genetic analysis of given names shows that, in the Scilly Isles, coefficients of relationship of first names are similar on St Mary's, the Outer Isles, and in the total sample of 5666 individuals married there in two and a half centuries. Comparable coefficients of relationship of a sample of 1658 given names in marriages in England and Wales in 1975 are considerably smaller, but similar within and between districts. The coefficients of relationship of given names on the Scilly Isles decreases during the 19th and especially the 20th centuries in parallel with decreases in random relationship from surnames. The genetic versus cultural-linguistic factors cannot be distinguished in the temporal variation in names, but the geographic differentiation virtually always reported in surnames is not present in these examples of given names and the geographic pattern in the surnames thus seems to result from the hereditary aspect of surnames. This result supports the validity of use of surnames in models of human genetic geography.     

Genetic connectivity between north and south Mid-Atlantic Ridge chemosynthetic bivalves and their symbionts

Transform faults are geological structures that interrupt the continuity of mid-ocean ridges and can act as dispersal barriers for hydrothermal vent organisms. In the equatorial Atlantic Ocean, it has been hypothesized that long transform faults impede gene flow between the northern and the southern Mid-Atlantic Ridge (MAR) and disconnect a northern from a southern biogeographic province. To test if there is a barrier effect in the equatorial Atlantic, we examined phylogenetic relationships of chemosynthetic bivalves and their bacterial symbionts from the recently discovered southern MAR hydrothermal vents at 5°S and 9°S. We examined Bathymodiolus spp. mussels and Abyssogena southwardae clams using the mitochondrial cytochrome c oxidase subunit I (COI) gene as a phylogenetic marker for the hosts and the bacterial 16S rRNA gene as a marker for the symbionts. Bathymodiolus spp. from the two southern sites were genetically divergent from the northern MAR species B. azoricus and B. puteoserpentis but all four host lineages form a monophyletic group indicating that they radiated after divergence from their northern Atlantic sister group, the B. boomerang species complex. This suggests dispersal of Bathymodiolus species from north to south across the equatorial belt. 16S rRNA genealogies of chemoautotrophic and methanotrophic symbionts of Bathymodiolus spp. were inconsistent and did not match the host COI genealogy indicating disconnected biogeography patterns. The vesicomyid clam Abyssogena southwardae from 5°S shared an identical COI haplotype with A. southwardae from the Logatchev vent field on the northern MAR and their symbionts shared identical 16S phylotypes, suggesting gene flow across the Equator. Our results indicate genetic connectivity between the northern and southern MAR and suggest that a strict dispersal barrier does not exist.     

Russian genofond. Genogeography of surnames

Surnames are traditionally used in population genetics as "quasi-genetic" markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient rho = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.     

Sicilian provinces: population subdivisions revealed by surname frequencies

The Sicilian population has a complex history of colonization and invasions that have influenced the genetic composition of the nine provinces of the island. Because surnames are patrilineally inherited, they simulate a Y-chromosome nonrecombinant genetic locus. We used surname data and a specific sampling strategy to describe the major subdivisions in each province and for the whole island of Sicily. The high number of families per surname in two provinces can be related to inbreeding as a result of founder events. Each province shows a major division, which, according to local historical events, likely represents cultural and probably genetic differences between east and west, between north and south, or between the inner regions and the coastal area. On the island level surnames reproduce the same separation, obtained by others with genes, of the eastern area from the western area. The separation is attributed to Greek influence in the east and to Phoenician-Carthaginian-Norman influence in the west. This separation crosses the two central provinces of Agrigento and Caltanissetta.     

Medico-genetic study of the Kostroma Region population. VIII. Genetic structure of large subdivided populations and its relation with the incidence of autosomal-recessive pathology

FST was estimated for 67 communities and 6 small towns of Kostroma province. The mean FST value for rural and urban populations was (0.83 +/- 0.08).10(-3) and (0.29 +/- 0.07).10(-3), respectively. The connection between FST values and the load of autosomal-recessive disorders was established; the coefficient of correlation (by Chuprov) was 0.34 (chi 2 = 8.45; P less than 0.05). The matrices of genetic distances for two groups of districts of Kostroma province, based on surnames frequencies, were calculated. Dendrogramms were constructed using genetic distances, which reflect the degree of genetical similarity of the populations. The conclusion drawn from the analysis of these dendrogramms is that there is distinct isolation by distance in populations of Kostroma province. It is shown that genetical subdivision of populations is dependent on geographical and some other factors and on the load of autosomal-recessive pathology in the population.