Nonmetric traits of the cranium are often used to support hypotheses of the history and divergence of human populations. These studies rely on the assumption that nonmetric traits are heritable, yet few skeletal series exist with associated pedigree information that allow for the calculation of additive genetic variance, or heritability. In addition, traits for which heritabilities have been published represent dichotomous present/absent forms instead of the range of expression that can be observed for many nonmetric characters. In the present study I use a maximum-likelihood variance components analysis to calculate univariate narrow-sense heritability estimates on the skeletal series from Hallstatt, Austria, for 9 sutural bones, 27 multilevel traits, and dichotomized present/absent forms for 19 of these multilevel characters. Most of the trait heritabilities do not differ significantly from a model of h² = 0, and they have large standard errors. In a heuristic comparison of multilevel versus dichotomous trait forms, most of the nonmetric characters showed no differences in heritability between the two methods used for parsing the phenotypic variation, although where differences were noted, the presence-absence version had higher heritabilities. These results have implications not only for the use of particular nonmetric traits in population studies but also for the practice of character dichotomization in data collection.

Differences in the prevalence of thrombophilias in different ethnic populations have been demonstrated. Because the Australian population includes many different ethnic groups, we sought to assess the effect of ethnicity in our Australian prenatal population on the prevalence of thrombophilic polymorphisms. Asymptomatic, nulliparous women (n = 1,129) recruited for a large prospective study were included in this analysis. These women had no personal or family history of venous thromboembolism and were not known to be carrying an inherited or acquired thrombophilia. Ethnicity was determined at recruitment, and women were categorized as being of Northern European, Southern European, Middle Eastern, Asian, or Other ethnicity. These women underwent genotyping for the following polymorphisms: factor V Leiden G1691A, prothrombin gene A20210G mutation, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and thrombomodulin C1418T. The factor V Leiden allele was seen significantly more frequently in patients of Middle Eastern background compared to those of Northern European and Asian ethnicity (p < 0.05). The prothrombin gene mutation was seen significantly more frequently in patients of Southern European ethnicity compared to those of Northern European or Asian ethnicity (p < 0.05). The MTHFR C677T allele (mutant) was significantly less common in those of Asian ethnicity compared to patients of Northern European and Southern European ethnicity (p < 0.0005). There were no significant differences seen with the MTHFR A1298C polymorphism. The mutant thrombomodulin allele was seen significantly more frequently in Asian women compared to Northern European, Southern European, or Middle Eastern women (p < 0.005). There are important ethnic differences in the prevalence of thrombophilic polymorphisms in the Australian prenatal population.

Mitochondrial hypervariable region I genetic data from ancient populations at two sites in Asia—Linzi in Shandong (northern China) and Egyin Gol in Mongolia—were reanalyzed to detect population affinities. Data from 51 modern populations were used to generate distance measures (F_ST's) to the two ancient populations. The tests first analyzed relationships at the regional level and then compiled the top regional matches for an overall comparison to the two probe populations. The reanalysis showed that the Egyin Gol and Linzi populations have clear distinctions in genetic affinity. The Egyin Gol population as a whole appears to bear close affinities with modern populations of northern East Asia. The Linzi population seems to have some genetic affinities with the West, as suggested by the original analysis, although the original attribution of “European-like” seems to be misleading. We suggest that the Linzi individuals are potentially related to early Iranians, who are thought to have been widespread in parts of Central Eurasia and the steppe regions in the first millennium b.c., although some significant admixture between a number of populations of varying origin cannot be ruled out. We also examine the effect of sequence length on this type of genetic data analysis and discuss the results of previous studies on the Linzi sample.

Most of the inhabitants of South Tyrol in the eastern Italian Alps can be considered isolated populations because of their physical separation by mountain barriers and their sociocultural heritage. We analyzed the genetic structure of South Tyrolean populations using three types of genetic markers: Y-chromosome, mitochondrial DNA (mtDNA), and autosomal Alu markers. Using random samples taken from the populations of Val Venosta, Val Pusteria, Val Isarco, Val Badia, and Val Gardena, we calculated genetic diversity within and among the populations. Microsatellite diversity and unique event polymorphism diversity (on the Y chromosome) were substantially lower in the Ladin-speaking population of Val Badia compared to the neighboring German-speaking populations. In contrast, the genetic diversity of mtDNA haplotypes was lowest for the upper Val Venosta and Val Pusteria. These data suggest a low effective population size, or little admixture, for the gene pool of the Ladin-speaking population from Val Badia. Interestingly, this is more pronounced for Ladin males than for Ladin females. For the pattern of genetic Alu variation, both Ladin samples (Val Gardena and Val Badia) are among the samples with the lowest diversity. An admixture analysis of one German-speaking valley (Val Venosta) indicates a relatively high genetic contribution of Ladin origin. The reduced genetic diversity and a high genetic differentiation in the Rhaetoroman- and German-speaking South Tyrolean populations may constitute an important basis for future medical genetic research and gene mapping studies in South Tyrol.

We examined genetic variation in nine populations of Dagestan using 11 autosomal Alu insertion polymorphisms to investigate the genetic structure of indigenous groups and to assess their genetic relationship with world populations. Genetic differentiation among mountain inhabitants (G_ST = 2%) is comparable to that for European populations. Traces of genetic drift are detectable only for endogamous and small Ando-Dido-speaking ethnic groups, and they coincide with the most linguistically diverse region of Dagestan. Multidimensional scaling analyses among West Eurasian populations revealed that mountain inhabitants of Dagestan are closely related to Anatolian and Cyprus Turks. Thus our frequency data are consistent with the available Y-chromosome data, according to which the Middle East and the Caucasus share a considerable portion of the gene pool. Overall, our results corroborate the initially suggested genetic contribution of Middle Eastern populations to Caucasus populations.

The native peoples of Gorno Altai in southern Siberia represent a genetically diverse population and have been of great interest to anthropological genetics. In particular, the southern Altaian population is argued to be the best candidate for the New World ancestral population. In this study we sampled Altai-Kizhi from the southern Altaian village of Mendur-Sokkon, analyzed mtDNA RFLP markers and HVS-I sequences, and compared the results to other published mtDNA data from Derenko et al. (2003) and Shields et al. (1993) encompassing the same region. Because each independent study uses different sampling techniques in characterizing gene pools, in this paper we explore the accuracy and reliability of evolutionary studies on human populations. All the major Native American haplogroups (A, B, C, and D) were identified in the Mendur-Sokkon sample, including a single individual belonging to haplogroup X. The most common mtDNA lineages are C (35.7%) and D (13.3%), which is consistent with the haplo-group profiles of neighboring Siberian groups. The Mendur-Sokkon sample exhibits depressed HVS-I diversity values and neutrality test scores, which starkly differs from the Derenko et al. (2003) data set and more closely resembles the results for neighboring south Siberian groups. Furthermore, the multidimensional scaling plot of D_A genetic distances does not cluster the Altai samples, showing different genetic affinities with various Asian groups. The findings underscore the importance of sampling strategy in the reconstruction of evolutionary history at the population level.

We computed mean inbreeding coefficients (F_IT, F_IS, and F_ST) based on approximately 2,700 ascending pedigrees of contemporary people from Saguenay Lac-St-Jean (Québec, Canada). This allowed us to appreciate the accumulated inbreeding and to follow the evolution of these coefficients since the founding of Québec. One of the results was the expected increase in F_ST. Relying on this parameter, we computed the effective size (N_e) of the contemporary population, obtaining a value around 1,000, in agreement with previous estimations. We noticed a decrease of N_e through history despite the population's growing size.

Our aim in this study is to report on the polymorphism of the APOE gene in the Azores Islands (Portugal) to obtain a population baseline of the existing variation in this locus, known to be one of the genetic determinants of plasma lipid levels. One hundred twenty-six Azorean individuals were typed for the APOE polymorphism using standard PCR-RFLP. Allele frequencies obtained for APOE*2, APOE*3, and APOE*4 were 6.75%, 83.73%, and 9.52%, respectively. The APOE*3/*3 genotype presented the highest frequency (69.84%), and the APOE*4/*4 genotype had the lowest frequency (0.79%). Genotype frequencies were in conformity with Hardy-Weinberg expectations. The observed genotype and allele frequencies were similar to those reported for other Iberian samples. Furthermore, Nei's gene diversity (𝐻̂ = 0.2864 ±0.0351) was similar to that reported for samples from mainland Portugal. The data generated from this study will be of importance in the context of ongoing studies concerning the factors that influence lipid levels in the Azorean population.

HLA class I antigens were determined for 959 unrelated Uruguayans. The predominant HLA alleles were A2, Cw4, and B35, and the most frequently observed two-loci haplotypes were A2-B44 and B35-Cw4. The most frequent three-loci HLA haplotype was A2-Cw5-B44. We compared the Uruguayan sample with similar data from other populations.