Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees.

Social and cultural factors had a critical role in determining the genetic structure of Europe. Therefore, socially stratified populations may help to focus on specific episodes of European demographic history. In this study, we use uniparental markers to analyse the genetic structure of Partecipanza in San Giovanni in Persiceto (Northern Italy), a peculiar institution whose origins date back to the Middle Ages and whose members form the patrilineal descent of a group of founder families. From a maternal point of view (mtDNA), Partecipanza is genetically homogeneous with the rest of the population. However, we observed a significant differentiation for Y-chromosomes. In addition, by comparing 17 Y-STR profiles with deep-rooted paternal pedigrees, we estimated a Y-STR mutation rate equal to 3.90 * 10(-3) mutations per STR per generation and an average generation duration time of 33.38 years. When we used these values for tentative dating, we estimated 1300-600 years ago for the origins of the Partecipanza. These results, together with a peculiar Y-chromosomal composition and historical evidence, suggest that Germanic populations (Lombards in particular) settled in the area during the Migration Period (400-800 AD, approximately) and may have had an important role in the foundation of this community.

Discordant patterns of mtDNA and ethno-linguistic variation in 14 Iranian Ethnic groups.

BACKGROUND/AIMS: Present-day Iran has long represented a natural hub for the expansion of human genes and cultures. That being so, the overlapping of prehistoric and more recent demographic events interacting at different time scales with geographical and cultural barriers has yielded a tangled patchwork of anthropological types within this narrow area. This study aims to comprehensively evaluate this ethnic mosaic by depicting a fine-grained picture of the Iranian mitochondrial landscape. METHODS: mtDNA variability at both HVS-I and coding regions was surveyed in 718 unrelated individuals belonging to 14 Iranian ethnic groups characterized by different languages, religions and patterns of subsistence. RESULTS: A discordant pattern of high ethno-linguistic and low mtDNA heterogeneity was observed for the whole examined Iranian sample. Geographical factors and cultural/linguistic differences actually represented barriers to matrilineal gene flow only for the Baloch, Lur from Yasouj, Zoroastrian and Jewish groups, for which unusual reduced levels of mtDNA variability and high inter-population distances were found. CONCLUSION: Deep rooting genealogies and endogamy in a few of the examined ethnic groups might have preserved ancestral lineages that can be representative of Proto-Indo-Iranian or prehistoric mitochondrial profiles which survived relatively recent external contributions to the Iranian gene pool.

Growth and malnutrition of rural Zimbabwean children (6-17 years of age).

The rural environment is an important factor in delayed growth in developing countries. The aim of this study was to investigate the effects of poor rural living conditions on the growth of a Shona sample in Zimbabwe. In total, 982 subjects aged 6-17 years were analyzed. Mean values of height, weight, skinfolds (triceps, subscapular, suprailiac, biceps, medial calf), cormic index, body mass index (BMI), arm composition (total upper arm area, upper arm muscle area, arm fat area, and arm fat index), fat percentage (%F), centripetal fat ratio (CFR), and the contribution of each skinfold to the adiposity of the trunk and upper limbs are presented. Weight, height, BMI, cormic index, SSCP, TRCP, arm circumference, and arm composition are compared with NHANES percentiles. Boys and girls showed stunting and underweight at ages 11-15 and 8-15, respectively; boys presented particularly severe malnutrition and their means of height and weight were below the 10th percentile. The means of arm circumference, UMA, UFA, and TRCP were below the 15th percentile in both sexes. The contribution of the skinfolds generally showed an overall prevalence of TRCP in both sexes; the contribution of SSCP was prevalent only for the 16- to 17-year-old boys. Males presented a higher CFR than girls after 14 years while females showed an irregular pattern. There was a high incidence of brachycormia and mesocormia in females and males, respectively. Height, weight, and BMI were similar to the values observed in other sub-Saharan countries, although body size was slightly larger than in South Africa and smaller than in Tanzania. The results provide a useful database for future comparisons.

Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians.

This study helps to clarify the debate on the Western and Eastern genetic influences in Central Asia. Thirty-six skeletal remains from Kazakhstan (Central Asia), excavated from different sites dating between the fifteenth century BC to the fifth century AD, have been analysed for the hypervariable control region (HVR-I) and haplogroup diagnostic single nucleotide polymorphisms (SNPs) of the mitochondrial DNA genome. Standard authentication criteria for ancient DNA studies, including multiple extractions, cloning of PCR products and independent replication, have been followed. The distribution of east and west Eurasian lineages through time in the region is concordant with the available archaeological information: prior to the thirteenth-seventh century BC, all Kazakh samples belong to European lineages; while later an arrival of east Eurasian sequences that coexisted with the previous west Eurasian genetic substratum can be detected. The presence of an ancient genetic substratum of European origin in West Asia may be related to the discovery of ancient mummies with European features in Xinjiang and to the existence of an extinct Indo-European language, Tocharian. This study demonstrates the usefulness of the ancient DNA in unravelling complex patterns of past human migrations so as to help decipher the origin of present-day admixed populations.

Body composition in Central Asia populations: Fat patterning variation in the Kazakhs of the Tien Shan mountains and the Uighurs of Semericia.

Eleven anthropometric variables related to fat patterning were analyzed in two populations of Central Asia, the Kazakhs of the Tien Shan mountains (2100 m) and the Uighurs of the Semericia plains. Subjects were healthy unrelated males, 122 Kazakhs and 79 Uighurs, 19-65 years. Comparisons were done with a preliminary analysis of variance and then by covariance analysis, taking into account the influence of age. The Uighurs, independently of age, show higher values than Kazakhs for all of the characteristics related to fat patterning, but principal components analysis suggests a similar somatic structure in the two samples. The presence of lower adiposity in the Kazakhs than in the Uighurs could be related to stress, probably associated with nutrition and lifestyle in a mountain environment. Am. J. Hum. Biol. 10:241-247, 1998. © 1998 Wiley-Liss, Inc.

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

N-acetyltransferase 2 (NAT2), an important enzyme in clinical pharmacology, metabolizes antibiotics such as isoniazid and sulfamethoxazole, and catalyzes the transformation of aromatic and heterocyclic amines from the environment and diet into carcinogenic intermediates. Polymorphisms in NAT2 account for variability in the acetylator phenotype and the pharmacokinetics of metabolized drugs. Native Americans, settled in rural areas and large cities of Latin America, are under-represented in pharmacogenetics studies; therefore, we sequenced the coding region of NAT2 in 456 chromosomes from 13 populations from the Americas, and two from Siberia, detecting nine substitutions and 11 haplotypes. Variants *4 (37%), *5B (23%) and *7B (24%) showed high frequencies. Average frequencies of fast, intermediate and slow acetylators across Native Americans were 18, 56 and 25%, respectively. NAT2 intra-population genetic diversity for Native Americans is higher than East Asians and similar to the rest of the world, and NAT2 variants are homogeneously distributed across native populations of the continent.

Inbreeding secular changes in the Riomaggiore and Silla Valleys, Italy, from 1565 to 1980.

Variations in the frequency of consanguineous marriages and inbreeding secular changes have been examined in an Italian mountain population from 1565 up to 1980. Wide microgeographic differences in inbreeding values related to the different altitude of the villages and their geographic location have been detected. A close parallelism between demographic variations and inbreeding secular changes has been pointed out. The dependence of the frequency increase in first cousin marriages observed in the second half of the XIX cent. On the increase in sibship size is suggested.

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).

Chemical and physical methods in dating human skeletal remains.

Chemical and physical methods for dating skeletal remains were examined. Benzidine reaction, ultra-violet fluorescence, specific gravity and supersonic conductivity were carried out on 71 dated skeletal findings distributed over the span of the last 3,5000 years. Results given by benzidine reaction and ultra-violet fluorescence basically coincide, and positive readings were obtained up to about 200-350 years. Values, measured in specific gravity and supersonic conductivity testing show a parallel trend, pointing out a clear difference between samples of the three first centuries and the ones belonging to more ancient periods examined.

Biological age in Italian adults: influence of social and behavioural factors.

This study investigated changes with age in biological characters in a sample of 571 Italian males aged between 25 and 64 years. The influence of environmental factors on inter-individual variation in physical efficiency was examined by biological age determination. Data on somatometric, physiometric, haematological variables, personal background and lifestyle, were collected. Principal-component analysis was used to study the patterns of relationship in these characters. Over 45% of the total variance is explained by the ageing process, but the secular trend also affects the variation of height and of height-related characters. Changes with age were investigated clustering the sample in eight 5-year classes: results are in agreement with previous findings in Western populations. Ten selected variables were transformed into biological age scores reflecting a man's status relative to his chronological age peers (Borkan and Norris 1980a). Biological age scores of subsamples characterized by different social and behavioural situations were compared. Occupation, educational level and physical activity seem to have the greatest influence on biological age status. The intensity or duration of some habits can induce a clear trend in biological age scores. Results suggest that the environmental influence could be related to the interindividual differences in physical efficiency and to the increase in variability with age observed for some characters.

Marital structure of the Italian community of Boston, Massachusetts, 1880-1920.

The marital structure of Italians living in Boston, Massachusetts, in the period 1880-1920 was studied in order to explore the integration process in the urban context. The study analyses endogamy and inbreeding, using data on 15,579 marriages from the parish books of the three Italian parishes of Boston. Endogamic rates are very high and increased in time, ranging from 93.9% to 97.3%. This correlated with the growth of the Italian community and the decline of the biased sex ratio. One parish, Our Lady of Pompeii in the South End, displays lower endogamic rates because of the reduced and scattered population attending it. The rate of consanguineous (2.33%) and isonymous (6.38%) marriages, and the coefficients of inbreeding, alpha (0.98 x 10(-3)) and Ft (0.0159), are similar to those of north Italian populations, and lower than those for south and insular Italy. The parish of Our Lady of Pompeii shows consistently higher values than the other two parishes. Marriages between first and second cousins are the main cause of the above values in each parish. Consanguineous marriages and inbreeding increased over time, from the 1890s, and this is in general agreement, although slightly delayed, with the Italian trend.

[The method of repeated pairs of surnames in marriages in analyzing the extent of subdivisions in populations]. / Il metodo delle coppie ripetute nell'analisi del grado di suddivisione di popolazioni.

PIP: The authors describe a method whereby studying the frequency of repeated pairs of surnames in married couples can be used to measure the extent of genetic subgroups in a population. They illustrate the application of this method using data on geographically and/or ethnically isolated minority populations in Italy and San Marino from the eighteenth century to the 1990s.^ieng

Patterns of gene flow inferred from genetic distances in the Mediterranean region.

The analysis of population structure may lead to inferences about demographic phenomena. In particular, regions of sharp genetic differentiation suggest the existence of factors that impaired gene flow and increased the evolutionary role of genetic drift. Here, we present an analysis of a data set of 10 allele frequencies in 39 populations of the Mediterranean region. As a preliminary step, we describe spatial patterns of allele frequencies using spatial autocorrelation analysis. We then construct a network connecting localities and estimate genetic distances along the edges of the network. By applying specific algorithms, we locate on the map the areas of sharpest genetic differentiation, or genetic boundaries. The main boundaries separate the northern and the southern coasts, especially in their western portions; in addition, several localities appear genetically isolated. The comparatively high genetic differentiation across the western Mediterranean, where the sea distances between localities are shorter, strongly suggests that the sea distance by itself can hardly be regarded as a major isolating factor among these populations. On the contrary, the decrease in genetic resemblance between populations of the 2 coasts as one proceeds westward may reflect an increased genetic exchange in the eastern Mediterranean basin or independent human dispersal along the 2 coasts or both.

[Genetic structure resulting from ABO and Rh systems and demographic events in the population of the Province of Modena]. / Struttura genetica in base ai sistemi ABO ed Rh e fattori demografici nella popolazione della Provincia de Modena

PIP: The blood groups (according to the ABO and Rh systems) of approximately 17,000 individuals from the mountainous, hilly, and plain regions of the Province of Modena, Italy, are analyzed in relation to age group, genetic distance, and geographic distance (SUMMARY IN ENG, FRE)^ieng

Surnames and genetic structure of a high-altitude Quechua community from the Ichu River Valley, Peruvian Central Andes, 1825-1914.

Changes in isolation, inbreeding, population subdivision, and isonymous relationships are examined in six Quechua communities from the upper valley of the Ichu River in the Peruvian Central Andes (3700 m). All marriages registered between 1825 and 1914 in the Parish of Santa Ana were analyzed. The data (1680 marriages) were divided into 2 periods (1825-1870 and 1871-1914) and into the 6 villages that constitute the parish. Endogamy rates are between 81% and 100%, indicating high levels of reproductive isolation. The inbreeding indicated by isonymy (Ft, Fr, and Fn) is lower than in other mountain populations studied. Isonymy values, calculated from the different surname combinations made possible by the Ibero-American Surnames System, indicate a strong rejection of consanguineous marriages, particularly between patrilineal relatives, in agreement with the parental structure typical of Andean populations. The comparison between observed and expected repeated-pair values reveals a moderate level of subdivision within populations, which could be related to cultural and socioeconomic factors. Nonmetric multidimensional scaling was used to investigate temporal changes in the isonymous relationships among the communities. The results reveal a decrease in the interpopulational variability measured by surnames, in agreement with an increase in exogamy. Surnames and data contained in historical and demographic records yield reliable information, and they can be used to reconstruct the biological history of Amerindian populations over the last few centuries.

Marriage behaviour in the Alpine Non Valley from 1825 to 1923.

BACKGROUND: The study is part of a research project on the marital structure of mountain populations from the Eastern Italian Alps. Little is known about marriage patterns in this Alpine area. AIM: The aim of the study is to evaluate the extent of reproductive isolation in some communities of the Non Valley (Trentino, Italy) and to investigate its microgeographic and temporal changes over the period 1825-1923. SUBJECTS AND METHODS: 4518 microfilmed marriage records from registers of seven parishes of the Non Valley were used to analyse the following: endogamy rate, inbreeding calculated both from dispensations and from isonymy, repeating pairs of surnames in marriages, isonymic relationships. RESULTS: The results show notable variability among parishes in the levels of endogamy (40-73%), inbreeding (alpha: 1.9-4.57; Ft: 0.0073-0.019) and subdivision (RPr/RP: 0.5-1.3). The values are relatively stable over the course of a century, apart from a rise in inbreeding indicated by dispensations and a slight decrease of endogamy at the beginning of the 20th century. Isonymic relationships reflect geographic proximity between populations, with minimum changes through time. CONCLUSIONS: Variations in the level of reproductive isolation within the Non Valley are consistent with the different geographic characteristics and population sizes of the settlements. Comparison with data obtained from previous studies in the Eastern Italian Alps shows that the values of the investigated biodemographic indicators are in line with the geography and altitude of the area. The slight differences in temporal trend of endogamy and inbreeding can be correlated with different migration patterns.

Body size, composition, and blood pressure of high-altitude Quechua from the Peruvian Central Andes (Huancavelica, 3,680 m).

Although much information is available about the effects of high altitude on physiological characteristics, less is know about its effect on body composition. In the present study, anthropometric and body composition variables were investigated in a sample of 77 adult Quechua males from the Peruvian Central Andes (Huancavelica, 3,680 m). The subjects are shorter in relation to body weight than other ethnic groups, whereas body proportions are macrocormic (indicating a long trunk relative to the lower extremities), with intermediate values of the acromial-iliac index. All skinfold thicknesses are low (approximately 15th percentiles of NHANES reference values for the triceps and subscapular skinfolds), but tend to be higher than in the other Quechua populations. Similar results are obtained when percentage fat is estimated. Somatotypes are dominant in mesomorphy with very low ectomorphy. Comparison with a sample of high-altitude Kirghiz (3,200 m), previously studied with the same methods, shows higher values in the Peruvian sample for all variables related to adiposity. The presence of low adiposity in the Quechua population could be associated with stresses of the high-altitude environment. Mean values of blood pressure are very low and there is no correlation with age.

Genetic structure of Quechua-speakers of the Central Andes and geographic patterns of gene frequencies in South Amerindian populations.

A sample of 141 Quechua-speaking individuals of the population of Tayacaja, in the Peruvian Central Andes, was typed for the following 16 genetic systems: ABO, Rh, MNSs, P, Duffy, AcP1, EsD, GLOI, PGM1, AK, 6-PGD, Hp, Gc, Pi, C3, and Bf. The genetic structure of the population was analyzed in relation to the allele frequencies available for other South Amerindian populations, using a combination of multivariate and multivariable techniques. Spatial autocorrelation analysis was performed independently for 13 alleles to identify patterns of gene flow in South America as a whole and in more specific geographic regions. We found a longitudinal cline for the AcP1*a and EsD*1 alleles which we interpreted as the result of an ancient longitudinal expansion of a putative ancestral population of modern Amerindians. Monmonnier's algorithm, used to identify areas of sharp genetic discontinuity, suggested a clear east-west differentiation of native South American populations, which was confirmed by analysis of the distribution of genetic distances. We suggest that this pattern of genetic structures is the consequence of the independent peopling of western and eastern South America or to low levels of gene flow between these regions, related to different environmental and demographic histories.

Lung volume, chest size, and hematological variation in low-, medium-, and high-altitude central Asian populations.

To evaluate adaptive responses to high-altitude environment, we examined three groups of healthy adult males from Central Asia: 94 high-altitude (HA) Kirghiz subjects (3,200 m above sea level); 114 middle-altitude (MA) Kazakh subjects (2,100 m), and 90 low-altitude (LA) Kirghiz subjects (900 m). Data on chest size (chest perimeter and chest diameter), lung volume (forced expiratory volume (FEV) and forced expiratory volume in 1 sec (FEV1)), and hematological parameters (hemoglobin, erythrocytes, hematocrit, and SaO(2)) are discussed. The results show that 1) chest shape is less flat in the samples living at higher altitude. In the HA sample, chest perimeter is lower but chest excursion is high. 2) In the highlanders, forced vital capacity (FVC) and FEV1 are no higher than in the other samples, even when corrected for stature and body weight. The negative correlation between FVC-FEV1 and age decreases with increasing altitude. 3) The HA and MA samples have higher values of hemoglobin, erythrocytes, and hematocrit. The HA sample has lower SaO(2) and higher arterial oxygen content than the LA sample. No association between hematocrit and age was detected in the four samples. The results indicate that the high-altitude Kirghiz present features of developmental acclimatization to hypobaric hypoxia which are also strongly influenced by other major high-altitude environmental stresses.

Digital and palmar dermatoglyphics and the population structure of the Upper Bologna Apennine.

Analysis of digital and palmar dermatoglyphics in an Italian mountain population was carried out. Dermatoglyphic variability was particularly investigated in samples from four different valleys. Microgeographical differences in qualitative and quantitative traits among valleys were found. The relationship between degree of endogamy and dermatoglyphic differences is discussed. The biological repercussion of isolation in the history of this Apennine population is also pointed out by means of comparisons with a nearby plains population characterized by low inbreeding.