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 north-side 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.

An understanding of population relationships in the Mediterranean region is crucial to the reconstruction of recent human evolution. Andalusia, the most southern region of Spain, has been continuously and densely occupied since ancient times and has a rich history of contacts with many different Mediterranean populations. Thus, to understand the Mediterranean peopling process, investigators should analyze the population relationships between the Iberian peninsula and northern Africa based on an assessment of genetic diversity that takes Andalusia into consideration. The aim of this study was to address the extent of genetic variation in the Iberian peninsula between its geographic extremes (Huelva and the Basque area) and to explain the intensity of the phylogenetic relationships between Andalusians and other neighboring populations, such as those from North Africa. We present, for the first time, results on allotype markers (GM and KM) of human immunoglobulins in the Andalusian population from Huelva. The most frequent GM haplotypes in Andalusia correspond to those that are also the most common in Europe. A sub-Saharan haplotype was found at a relatively high frequency compared to other Iberian samples, and a North Asian marker did not reach polymorphic frequencies in the study sample. A hierarchical cluster analysis based on the first two principal components (94.1% of the total genetic variance) revealed an interesting geographic structure for the 49 populations selected from the literature. The Huelva sample showed a central position in the multivariate space—despite being geographically located at one of the extremes of the Mediterranean basin—and clustered with most Western European populations. Western Europe and Eastern Europe (the latter group paradoxically including Italy and the major islands of the western Mediterranean) were differentiated. North African populations were grouped in two clusters that did not separate either Arabs and Berbers or their present-day countries. Analysis of immunoglobulin allotype markers shows that gene flow among human populations should generally be interpreted in terms of complex patterns, with the observed frequencies being the consequence of the entire genetic and demographic history of the population. Single historical events rarely determine gene frequencies in large human populations. Analysis of the GM system has shown that the Andalusian population from Huelva, as a result of its complex history, is not simply an outstanding part of the Mediterranean world but rather the genetic center of gravity of that world.

Mitochondrial DNA (mtDNA) variability was studied in a sample of 179 individuals representing the Czech population of Western Bohemia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding-region haplogroup-specific RFLP markers revealed that most Czech mtDNAs belong to the common West Eurasian mitochondrial haplogroups (H, pre-V, HV*, J, T, U, N1, W, and X). However, about 3% of Czech mtDNAs encompass East Eurasian lineages (A, N9a, D4, M*). A comparative analysis with published data showed that different Slavonic populations in Central and Eastern Europe contain small but marked amounts of East Eurasian mtDNAs. We suggest that the presence of East Eurasian mtDNA haplotypes is not an original feature of the gene pool of the proto-Slavs but rather may be mostly a consequence of admixture with Central Asian nomadic tribes, who migrated into Central and Eastern Europe in the early Middle Ages.

There is evidence that the CCR5-Δ32 mutation confers protection against HIV-1 infection to homozygous individuals. It is believed that this mutation spread through Europe with the Vikings and that it has been subjected to positive selection, leading to a high frequency in Europe (≈10%). We carried out the present study to determine the 32-bp deletion allele and genotype frequencies of the CCR5 gene (CCR5-Δ32) in the Atlantic island populations of Madeira, the Azores, Cabo Verde, and São Tomé e Príncipe. These Atlantic archipelagos were all colonized by the Portuguese in the 15th and 16th centuries, but the latter two received most of their settlers from the West African coast. The frequency of the CCR5-Δ32 mutation varies between 0% in São Tomé e Príncipe and 16.5% in the Azores. The Azores Islands have one of the highest frequencies of homozygotes found in Europe (4.8%). There are significant differences (P < 0.05) between some of these populations, for example, between São Tomé e Príncipe and Cabo Verde, and even within populations (e.g., Portugal, Madeira, and the Azores).

Microsomal epoxide hydrolase (EPHX1) is an important gene because of its role in the metabolism of components of cigarette smoke; thus it may be an important potential modifier of the risk of developing smoking-related lung disease, such as chronic obstructive pulmonary disease (COPD). Several studies have investigated EPHX1 and COPD, but some of these studies have potentially been affected by genotyping error. We investigated the influence of single nucleotide polymorphisms (SNPs) in EPHX1 on well-characterized COPD and intermediate phenotypes. A total of 1,232 participants completed a detailed respiratory questionnaire and spirometry. From this sample, 72 COPD cases (FEV₁/FVC < 0.70 and FEV₁ < 80% predicted) and 220 control subjects (no respiratory symptoms and normal lung function) were selected for analysis. The EPHX1 exon 3 and EPHX1 exon 4 polymorphisms were carefully genotyped to avoid error using several methods. We found that the EPHX1 exon 3 polymorphism was not associated with an increased risk of COPD, nor was the EPHX1 exon 4 polymorphism. In addition, none of the EPHX1 haplotypes were associated with an increased risk of any COPD phenotype. This finding, along with doubt shed on the accuracy of other studies that have demonstrated positive associations, suggests that a strong role for the EPHX1 polymorphisms in respiratory disease is unlikely.

To determine the origin of sickle cell mutation in different ethnic groups living in southern Iran, we studied the haplotype background of the β^S and β^A genes in subjects from the provinces of Fars, Khuzestan, Bushehr, Hormozgan, and Kerman and from the islands of Khark and Qeshm. β-globin gene cluster haplotypes were determined using the PCR-RFLP technique. Detection of −α^3.7 deletion and β-thalassemia mutations were defined by PCR and reverse dot blot techniques, respectively. The framework of the β-globin gene was determined using denaturing gradient gel electrophoresis. We found that the β^S mutation in southern Iran is associated with multiple mutational events. Most of the patients were from two ethnic groups: Farsi speakers (presumably Persian in origin) from Fars province and patients of Arab origin from Khuzestan province. In both ethnic groups the Arab-Indian haplotype was the most prevalent. The frequencies of the Arab-Indian and African haplotypes in sickle cell anemia patients from the provinces of Fars and Khuzestan were similar. Among β^A chromosomes the Bantu A2 haplotype was the most prevalent. The decrease in α-globin production in SS patients and AS individuals appeared to be related to the reduction in mean cell volume and mean cell hemoglobin. The Arab-Indian haplotype gene flow into this region of Iran can be traced to the Sassanian Empire. It is likely that the influx of β^S genes linked to the Benin and Bantu haplotypes, of African origin, must have occurred during the Arab slave trade.

The purpose of the present cross-sectional study was to examine the relationship and effect of monthly household income, birth order, and number of siblings on adult body dimensions, adiposity index, and body composition among adult Bengali females. One hundred seventy-one adult Bengali females, age 20.35 ±1.51 years (mean ±SD; range: 18–21 years) from Kolkata (formerly Calcutta) were studied. Anthropometric measures (weight, height, waist circumference, hip circumference, and triceps, biceps, subscapular, suprailiac, and medial calf skinfold thicknesses) were taken from all participants using standard protocols. BMI and log₁₀ of the sum of the five skinfold thicknesses were computed subsequently. Percentage of body fat was estimated from the triceps skinfold thickness following the equation of Durnin and Womersley (1974), and fat mass was then calculated. Results of the correlation analysis revealed that monthly household income had significant (p < 0.05) positive association with all anthropometric variables. Birth order and number of siblings showed significant (p <0.05) inverse association. The correlation of monthly household income with anthropometric variables was much stronger for number of siblings and birth order. The results of the analysis of variance showed that monthly household income, birth order, and number of siblings (tertiles used to categorize all variables) had significant effects (p <0.05) on anthropometric variables, indicating differences in adult body dimensions, the adiposity index, and body composition in relation to income, birth order, and number of siblings.

We studied five population samples from Argentina, four drawn from Native American groups of the northeast region (Wichí, Pilagá, Toba, and Mbyá-Guaraní) and one from two small villages of the Córdoba province. In this study we report genotypes and allele frequencies of the 9.1-kb insertion-deletion polymorphism located on chromosome 22. The frequency of the deletion allele ranges from 0.276 in the Mbyá-Guaraní to 0.470 in the Pilagá. The coefficient of population differentiation is fairly low (F_ST = 0.013), does not reflect any geographic or linguistic pattern, and seems to be more related to stochastic processes than to directional forces.

β-globin gene cluster haplotype frequencies of 169 Khalkhs and 145 Buryats were estimated, and their characteristics were compared with those of Evenkis, Oroqens, Koreans, Japanese, and three Colombian Amerindian groups. The present study suggests that Colombian Amerindians diverged first from Asian populations and then Buryats diverged from other Asian populations.

Allele frequency data for the STR systems D3S1358, TH01, D21S11, D18S51, PENTAE, D5S818, D13S317, D7S820, D16S539, CSF1PO, PENTAD, VWA, D8S1179, TPOX, and FGA were determined in two population samples of unrelated, healthy Tibetan individuals. All loci met Hardy-Weinberg expectations, and there was no evidence of association of alleles among the 15 loci. These findings suggest that these STR loci could be particularly powerful tools in forensic medicine and could provide the necessary fundamental population genetic data for the reconstruction of recent human evolutionary history.