Trends in inbreeding, isonymy, and repeated pairs of surnames in the Valserine Valley, French Jura, 1763-1972

The estimates of inbreeding derived from pedigrees and frequency of isonymous marriages (i.e., between persons of the same surname) are compared using genealogical and isonymic information from 4,899 marriages recorded between 1763 and 1972 in 4 rural villages of the French Jura region (a mountainous area near the Swiss border). Before the second half of the 20th century, the two kinds of estimates show a different temporal evolution. The mean inbreeding coefficient based on pedigrees increases between 1763 and 1852 and reaches a maximum between 1853 and 1882 (alpha = 0.0028), with a very low percentage (< 1%) the result of remote kinship. The mean inbreeding coefficient based on isonymy is always higher, with a maximum observed between 1793 and 1822 (F = 0.0200), and it remains roughly the same between 1763 and 1882 (F = 0.0150), with a high percentage resulting from a random component (Fr), a consequence of the small population size and genetic drift. After 1883, the 2 mean coefficients decrease. This discordance is largely explained by the poor quality, for the first periods, of the genealogical data base, which ignores the more remote links of kinship, justifying the use of the model of Crow and Mange (1965) to explore consanguinity during the more ancient periods. The temporal evolution of the repeated pairs of surnames index (RP) confirms the recent evolution of the marital structure of the valley. Moreover, it appears that isonymous marriages and repeated and unique pairs of surnames constitute 3 distinct matrimonial groups characterized by both a different mean coefficient of inbreeding (alpha) and a different rate of endogamy.     

Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): migrations and marriage structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is FTT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (FIS = 0.002232 and FST = 0.000700).     

Note on estimates of the inbreeding coefficient through study of pedigrees and isonymous marriages

Crow and Mange (1965) developed a method to estimate the inbreeding coefficient (F) through an ingenious surname analysis. Such formulations assume a regularity of transmission of surnames, monophyletism, and random occurrence of consanguineous marriages. Accordingly, the ratio of isonymous partners to F of the offspring is equal to 4. Nevertheless, genealogy analyses show that the consanguineous marriages do not necessarily occur regularly. Therefore the isonymy analysis gives a misestimation of the inbreeding coefficient, depending on the prevailing form of nonrandomness. We suggest a small correction to the formulation in situations when pedigree information is available. The weighted mean of the ratio of isonymous partners to F of the known consanguineous marriages is suggested as a way to improve the formulas. The technique was applied to a northeastern Brazilian sample, and the results agree well with those of bioassays and therefore provide an apparently more realistic estimate of the inbreeding coefficient by isonymy.     

Inbreeding as measured by isonymy in two Venezuelan populations and its relationship to other variables

Isonymy is a useful approach to the study of population structure and thus can be utilized to detect deviations from random mating. In this study we give the results of an analysis of inbreeding levels and relate such variables as mean marital distance, surnames repeated in isonymous couples, and percentage of people using only maternal surnames to inbreeding and endogamy in two Venezuelan populations of black ancestry, Birongo and La Sabana. These populations differ in their sociocultural development and degree of isolation. We estimated inbreeding through isonymy and directly from genealogy. The most important findings are that the Ft values are higher than the a's, that the Fn component of Ft is higher than the Fr component, and that there is higher endogamy, inbreeding, and isolation in Birongo than in La Sabana. These results are in agreement with the sociocultural and historical background and development of each population. Nevertheless, both populations show similar temporal trends in almost all the variables analyzed. The use of isonymy as a complementary tool to study population structure is proposed, especially for Ibero-American populations.     

Genetic Demographic Description of the Ust-Aldan Rural Population of Sakha Republic (Yakutia): Migrations and Marriage Structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is F _IT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (F _IS = 0.002232 and F _ST = 0.000700).     

Genetic structure of the Saguenay, 1852-1911: evidence from migration and isonymy matrices

The Saguenay is a region in northeastern Québec populated in the second half of the 19th century through migration from other parts of Québec. The present-day population of nearly 300,000 is the result of both immigration and high rates of intrinsic growth. This population has been of interest to geneticists because of the high incidence of certain hereditary diseases, notably spastic ataxia, tyrosinemia, agenesis of the corpus callosum, vitamin D-dependent rickets, and myotonic dystrophy. Parent-offspring migration and isonymy matrices were used to estimate random kinship using the Malécot model for six 10-year time periods from 1852-1911. Comparisons between two estimates of kinship--one from parent-offspring migration matrices (phi) and the other from isonymy (R)--and geographic distance were made using both product-moment and Mantel correlation. Comparisons of within- and between-subdivision kinship were made using nonparametric and Mantel correlation. Within-subdivision kinship from the phi matrix was also compared with kinship estimated from marriage dispensations for endogamous marriages. The estimates of random kinship from the parent-offspring matrices showed a good fit with geography. However, isonymy did not correlate well with geographic distance; and phi and R showed no correlation until the last two time periods, and the diagonal of phi did not correlate with the marriage dispensations. Examination of scatterplots of phi vs. R suggests that nonrandom migration during the process of settlement formation is responsible for the lack of correlation. While movement across space seems to be highly dependent on distance, nonrandom selection of migrants means that between-subdivision estimates of kinship based on migration are not congruent with those obtained by other methods. On the whole, genetic differentiation seems to have been low due to the high levels of movement between subdivisions and immigration. The weak dependence of genetic structure on geographic distances in the present population is demonstrated by mapping the geographic distribution of cases of three recessively inherited diseases.     

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.     

Inbreeding in Finland

We have compiled data on the frequency of first-cousin marriages in Finland using royal dispensation records for the time period 1810-1872 and national population statistics for the time period 1878-1920. For the earlier period, 0.315% of Finland's marriages were contracted between first cousins (2,331 of 739,387). During the second time period, 0.174% of Finland's marriages took place between first cousins (1,325 of 761,976). These figures, which yield average kinship coefficients of 0.00020 and 0.00011, respectively, show that the level of inbreeding in Finland due to first-cousin marriage has been quite low. An analysis of individual parishes shows that first-cousin marriages are, on average, substantially less frequent than predicted by a random-mating model. In order to evaluate determinants of first-cousin marriage, several predictive variables have been examined: parish ethnic composition (proportion of Swedish and Finnish speakers), husband's occupation (graded into 6 socioeconomic levels), geographic distance between spouses' premarital residences, population density, parish endogamy, and urban vs. rural residence. Various logistic and linear regression models were analyzed in which consanguinity was the dependent variable. The best predictors of consanguinity were ethnic composition and occupation. The other variables were not in general significant predictors. These results show that many of the "mate availability" factors that would be predicted theoretically to account for consanguinity variation (population density, geographic isolation, urban vs. rural residence) do not. Instead, the best predictors of consanguinity at the first-cousin level are cultural factors such as ethnicity and occupation. Evaluation of cultural variables can provide a greatly enriched interpretation of complex biosocial phenomena such as inbreeding.     

Testing isonymy with paternal and maternal lineages in the early Québec population: the impact of polyphyletism and demographic differentials

Isonymy is an ingenious and useful approach to studying kinship in human populations. However, it relies on assumptions that are difficult to verify. In this study, we provided a way to assess, in the early Québec population, the impact of factors such as polyphyletism, unbalanced sex-ratio among founders, and age differentials between spouses. All data were taken from the Population Register of Early Québec, which contains births, marriages, and deaths (>712,000) recorded in parish registers from the beginning of colonization (in 1608) to 1800. More specifically, using the 70,869 marriages recorded during that period, we compared kinship estimates given by genealogies, surnames, and paternal and maternal lineages. We also calculated a fifth coefficient of kinship by combining paternal and maternal lineage, thus providing a new way to test the isonymy method. The results show a good agreement between genealogical and isonymous estimates. However, this good correspondence is due to counterbalancing biases. Some of the implications of our results are discussed in the context of colonial America.     

The names of Spain: a study of the isonymy structure of Spain

In order to estimate the isonymy structure of Spain, we studied surname distribution in 283 Spanish towns based on 3.625 million telephone users selected from 6.328 million users, downloaded from a commercial CD-ROM which contains all 13 million users in the country. Since in Spain the surname is made by the paternal and the maternal surname, it was possible to classify surnames according to parental origin. Two matrices of isonymy distances, one for paternal and one for maternal surnames, were constructed and tested for correlation with geographic distance. For the whole of Spain, Euclidean distance was significantly but weakly correlated with geographic distance both for paternal and maternal surnames, with r = 0.205 +/- 0.013 and r = 0.263 +/- 0.012, respectively. Two dendrograms of the 283 sampled towns were built from the two matrices of Euclidean distance. They are largely colinear. Four main clusters identified by the dendrograms are correlated with geography. Given the surname structure of Spain, we were able to calculate from isonymy and for each town 1). total or expressed inbreeding, 2). random or expected inbreeding, and 3). local inbreeding. Total inbreeding, F(IT), was highest in the North Atlantic regions and lowest along the Mediterranean Coast. The lowest levels were found in Andalusia, Catalunyia, Valencia, and Navarra. Random inbreeding, F(ST), had a similar geographical pattern. Local inbreeding, F(IS), was relatively uniform in the whole of Spain. In towns, random inbreeding dominates over local inbreeding. From the analysis, it emerges that the northwestern area of Spain is the most inbred.     

Genetic and demographic characteristics of rural populations of Altaĭ republic: dynamics of the marriage structure

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.     

Genetic relationships between parishes in the Ebro delta region (Spain) as estimated by migration matrix and surnames

To determine whether there are preferential relationships among individuals from the different parishes of the Ebro River delta region, we analyzed the population relationships, taking into account both the birthplaces of the spouses and their surname frequencies. We used data from the 9,085 marriages recorded in the Ebro delta area between 1939 and 1995. Using each spouse's birthplace, we calculated the distances between the subject populations by means of the squared Euclidean distance. Also, from the surname frequencies in the marriages we obtained certain kinship measurements. In both analyses the results show a clear differentiation between the parish of Amposta and the rest of the parishes. This difference is mainly due to a greater number of marriages in which delta outsiders participated and can be related to the greater surname diversity and lesser endogamy observed in this population. On the other hand, if only endogamous marriages are taken into account, there is clearly a differentiation between the parishes from both banks of the river, with a strong homogeneity among the northside parishes. We compared the distances obtained from the birthplaces, the kinship parameters obtained from the surnames, and two geographic distance matrixes by means of a Mantel test, and the results show a strong and significant correlation between them when all marriages are considered. If, on the other hand, only endogamous marriages are taken into account, the barrier effect of the river on the interparish relationships can be appreciated.     

Estimation of inbreeding,kinship and genetic distances from surnames--coastal population of middle Dalmatia,Croatia

This work was dedicated to the investigation of the population structure of the middle Dalmatia settlements: Jesenice, Mimice, Zivogos?e and Zaostrog by surname distribution study and applying the isonymous method. The surnames of males and females in marital pairs were analyzed as well as of their first and second-generation ancestors on the sample of a total of 3,024 examinees. The analyses of surnames pointed to the rates of inbreeding, kinship and genetic distances of the populations. Although the values of the inbreeding coefficient are high in all the four settlements, the inbreeding coefficient is exceptionally high in Mimice. A total kinship coefficient for the four settlements speaks also in favor of the high rate of kinship in the examined settlements, i.e. of the high rate of the reproductive isolation of the whole region during the analyzed period. The reasons for such high coefficients are natural features of the examined region (the mountains of Mosor, Biokovo and Rili?), poor traffic connection of this region in the past, the patrilineal mode of inheritance and the demographic specifics of the population. The matrix of genetic distances between examined settlement pairs reveals that Mimice, a settlement with the highest share of isonymous marriages, shows the greatest distances in comparison to the other settlements. On the other hand, Jesenice, Zivogos?e and Zaostrog are characterized by small genetic distances, which is the fact that speaks in favor of their genetic homogenization and "openness" toward interpopulational migrations, i.e. the gene flow.     

Genetic and demographic characteristics of rural populations of Altai Republic: The marriage structure dynamics

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.Translated from Genetika, Vol. 41, No. 2, 2005, pp. 261–268.Original Russian Text Copyright © 2005 by Kucher, Tadinova, Puzyrev.     

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]     

Surnames in the Azores: analysis of the isonymy structure

Geographic isolation is a significant factor to consider when characterizing human populations. The knowledge of the genetic structure of isolated populations has been of great importance to disease-locus positioning and gene identification. To investigate the genetic structure of the Azorean population, we conducted a survey based on the frequencies of surnames listed in the 2001 telephone book. We calculated the following parameters: isonymy (I), the random component of inbreeding (F(ST)), genetic diversity according to Fisher (alpha), Karlin-McGregor's migration rate (v), and Nei's distance. For the 1,271 subscribers and 163 different surnames, Graciosa island presented the lowest value of abundance of surnames (alpha = 15.75), suggesting great genetic isolation compared to the other eight islands. Migration, calculated on the basis of the diversity of surnames within islands, ranged from 0.2747 (Corvo island) to 0.0026 (S?o Miguel island), indicating that people migrated preferentially toward the economically more developed islands. The value of the random component of inbreeding obtained for the whole population (F(ST) = 0.0039) indicates little genetic differentiation (Wright's F(ST) < 0.05). Moreover, isonymy similarity revealed using the UPGMA method shows three subclusters corresponding to the geographic distribution of the islands.     

Analysis of marital structure in Massachusetts using repeating pairs of surnames.

Analysis of surnames from marriages is now a well-established method in the study of marital and genetic structure. Traditional methods of partitioning inbreeding into random and nonrandom components rely on the total number of isonymous marriages. Because this number is often low, standard errors of inbreeding estimates tend to be high. Lasker and Kaplan (1985) devised a method that circumvents this problem by focusing on the total number of repeating pairs (RP) of surnames among marriages. The observed value of RP can be compared with the value expected at random (RPr) to assess patterns of subdivision within a population. The RP method is applied here to data from 3431 marriages that took place from 1800 to 1849 in 4 Massachusetts towns. The level of excess RP [(RP-RPr)/RPr] is positively associated with population size and exogamy rate. These results indicate a tendency for greater relative subdivision in larger, more exogamous populations. One possible reason for increased subdivision is preferential marriage by social class, although adequate data are not available for a test of this hypothesis.     

Medico-genetic study of the population of Kostroma Province. VI. The parameters of isolation by distance in the populations of the Bui and Shar'ya Districts of Kostroma Province

A model of isolation by distance proposed by Malécot and developed by Morton is applied to the data on marriage distances collected in two regions of Kostroma Province. There is good agreement between the estimates of local inbreeding when using the isonymy method and the model of isolation by distance. Interpopulation kinship approaches 0 at the distance 700 km. The mean coefficient of kinship for parents in the families with autosomal-recessive pathology is 20 times higher than mean coefficient of kinship in the population.     

Inbreeding patterns in La Cabrera, Spain: dispensations, multiple consanguinity analysis, and isonymy

Marital structure and inbreeding coefficients were analyzed in La Cabrera, an isolated mountain region in northwestern Spain. A total of 5,714 marriages were celebrated from 1880 to 1989 in the 37 parishes of the area. The total frequency of consanguineous marriages (up to the fourth degree) is 23.05%; multiple consanguineous marriages are remarkably common, reaching 5.43% of the total. The first cousin/second cousin ratio (referred to as kinship-type frequencies) is 0.43. The inbreeding values are the highest recorded in Spain and in Europe: alpha3 is 4.82 x 10(-3) for the whole period and alpha4 is 6.78 x 10(-3) for 1880--1919. The temporal trend of inbreeding shows high values (alpha3 > 4.5 x 10(-3)) for a particularly long period (1900--1959) and a rapid decline from 1960 onward. This historical inbreeding trend is clearly related to changes in population size. The frequencies of multiple consanguineous marriages and the analysis of isonymy show that the inbreeding structure is related to geographic and demographic factors. Comparing the results at two hierarchical levels (La Cabrera as a whole and the 37 parishes individually), we conclude that the inbreeding values are affected by internal geographic subdivision of the population (Wahlund effect). Social and cultural factors, such as avoidance of or preference for consanguineous marriages, are less important but depend on the kinship type involved.     

Inbreeding avoidance in an isolated indigenous Zapotec community in the valley of Oaxaca, southern Mexico

We analyzed inbreeding using surname isonymy in an indigenous genetic isolate. The subjects were residents of a rural Zapotec-speaking community in the valley of Oaxaca, southern Mexico. The community can be classified as a genetic isolate with an average gene flow of < or = 3% per generation. Surnames were collected for individuals in each household in pedigree form using the culturally traditional patronym-matronym naming. Estimation of inbreeding from surname isonymy is facilitated by the traditional patronym-matronym name assignment among indigenous Mexican populations. A total of 2,149 individuals had valid surname patronym-matronym pairings, including 484 deceased ancestors. Surname isonymy analysis methods were used to estimate total inbreeding and to segregate it into random and nonrandom components. The surname isonymy coefficient computed from 119 isonymous surname pairings (119/2,149) was 0.0554. The estimated inbreeding coefficient from surname isonymy was 0.0138 (0.0554/4). The random and nonrandom components of inbreeding were F(r) = 0.0221 and F(n) = -0.0091, respectively. The results suggest that consanguinity is culturally avoided. Nonrandom inbreeding decreased total inbreeding by about 41%. Total estimated inbreeding by surname isonymy was 0.0138, which is similar to inbreeding estimated from a sample of pedigrees, 0.01. Socially prescribed inbreeding avoidance substantially lowered total F through negative nonrandom inbreeding. Even in the situation of genetic isolation and small effective population size (N(e)), estimated inbreeding is lower than may have otherwise occurred if inbreeding were only random. However, among the poorest individuals, socially prescribed jural rules for inbreeding avoidance failed to operate. Thus the preponderance of inbreeding appears to occur among the poor, economically disadvantaged in the community.