The Yakuts, Middle Age Turkic speakers (15th–16th centuries), are widely accepted as the first settlers of the Altai-Baikal area in eastern Siberia. They are supposed to have introduced horses and developed metallurgy in this geographic area during the 15th or 16th century a.d. The analysis of the Siberian grave of Pokrovsk, recently discovered near the Lena River (61°29′ N) and dated by accelerator mass spectrometry from 2,400 to 2,200 years b.p., may provide new elements to test this hypothesis. The exceptional combination of various artifacts and the mitochondrial DNA data extracted from the bone remains of the Pokrovsk man might prove the existence of previous contacts between autochthonous hunters of Oriental Siberia and the nomadic horse breeders from the Altai-Baikal area (Mongolia and Buryatia). Indeed, the stone arrowhead and the harpoons relate this Pokrovsk man to the traditional hunters of the Taiga. Some artifacts made of horse bone and the pieces of armor, however, are related to the tribes of Mongolia and Buryatia of the Xiongnu period (3rd century b.c.). This affinity has been confirmed by the match of the mitochondrial haplotype of this subject with a woman of the Egyin Gol necropolis (Mongolia, 2nd/3rd century a.d.) as well as with two modern Buryats. This result allows us to postulate that contacts between southern steppe populations and Siberian tribes occurred before the 15th century.

Two hundred seventeen male subjects from Costa Rica, Mexico, and the Hispanic population of the southwestern United States were studied. Twelve Y-chromosome STRs and the HVSI sequence of the mtDNA were analyzed to describe their genetic structure and to compare maternal and paternal lineages. All subjects are part of two NIMH-funded studies to localize schizophrenia susceptibility genes in Hispanic populations of Mexican and Central American ancestry. We showed that these three populations are similar in their internal genetic characteristics, as revealed by analyses of mtDNA and Y-chromosome STR diversity. These populations are related through their maternal lineage in a stronger way than through their paternal lineage, because a higher number of shared haplotypes and polymorphisms are seen in the mtDNA (compared to Y-chromosome STRs). These results provide evidence of previous contact between the three populations and shared histories. An analysis of molecular variance revealed no genetic differentiation for the mtDNA for the three populations, but differentiation was detected in the Y-chromosome STRs. Genetic distance analysis showed that the three populations are closely related, probably as a result of migration between close neighbors, as indicated by shared haplotypes and their demographic histories. This relationship could be an important common feature for genetic studies in Latin American and Hispanic populations.

Located in the south Pacific Ocean, Rapanui is one of the most isolated inhabited islands in the world. Cultural and biological data suggest that the initial Rapanui population originated from central Polynesia, although the presence of foreign or exotic genes in the contemporary population, as a result of admixture with Europeans and/or South Americans during the last two centuries, also has to be considered. To estimate the genetic affinities of the Rapanui population with neighboring populations, we analyzed seven microsatellite polymorphisms of the Y chromosome that recently have been indicated as useful in the study of local population structure and recent demographic history. Phylogenetic analysis of Rapanui Y-chromosome haplotypes identified two clusters. The largest cluster contained 60% of all haplotypes and is characterized, in particular, by the presence of the DYS19*16, DYS390*20, and DYS393*14 alleles, a combination found frequently in Western Samoa. The second cluster is characterized by the presence of the DYS19*14, DYS390*24, and DYS393*13 alleles, and these have a relatively high frequency in European and European-derived populations but are either infrequent or absent in native Pacific populations. In addition to the two clusters, one male is of haplogroup Q*, which is indicative of native American ancestry. The genetic structure of the current male population of Rapanui is most likely a product of some genetic contribution from European and South American invaders who mated with the indigenous Polynesian women. However, analysis of Rapanui's relationships with other Pacific and Asian populations indicates that, as in Western Samoa and Samoa, the population has experienced extreme drift and founder events.

The (CGG)_n repeat size distribution in the FMR1 gene was studied in healthy individuals: 80 X chromosomes of Mexican Mestizos from Mexico City and 33 X chromosomes of Mexican Amerindians from three indigenous communities (Purepechas, Nahuas, and Tzeltales), along with alleles and haplotypes defined by two microsatellite polymorphic markers (DXS548 and FRAXAC1) and two single nucleotide polymorphisms (FMRA and FMRB). Genetic frequencies of Mestizo and Amerindian subpopulations were statistically similar in almost all cases and thus were considered one population for comparisons with other populations. Sixteen (CGG)_n alleles in the 17–38 size range were observed, and the most common were the 25 (38.0%), 26 (28.3%), and 24 (12.3%) repeat alleles. This pattern differs from most other populations reported, but a closer relation to Amerindian, European, and African populations was found, as expected from the historical admixture that gave rise to Mexican Mestizos. The results of the CA repeats analysis at DXS548-FRAXAC1 were restricted to nine haplotypes, of which haplotypes 7-4 (52.2%), 8-4 (23.8%), and 7-3 (11.5%) were predominant. The modal haplotype 7-4, instead of the nearly universal haplotype 7-3, had been reported exclusively in Eastern Asian populations. Likewise, only seven different FRAXAC1-FMRA-FMRB haplotypes were observed, including five novel haplotypes (3TA, 4TA, 3–A, 4–A, and 5–A), compared with Caucasians. Of these, haplotypes –A (78.7%) and 3–A (13.2%) were the most common in the Mexican population. These data suggest a singular but relatively low genetic diversity at FMR1 in the studied Mexican populations that may be related to the recent origin of Mestizos and the low admixture rate of Amerindians.

We have characterized 68 unrelated Basque individuals from Vizcaya, Spain, for 13 tetrameric short tandem repeat (STR) loci: CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, and VWA. Interpopulational analyses were also performed for 21 European and North African population data sets for nine of the STRs typed in the Basque sample. Heterozygosity values for the Vizcayan Basques were found to be high, ranging from 0.662 to 0.882, and none of the STR loci significantly deviated from Hardy-Weinberg equilibrium. Based on the comparative population data set, the average G_ST score is 0.7%, indicating a low degree of genetic differentiation. However, neighbor-joining trees and multidimensional-scaling plots of D_A genetic distances indicate that the Vizcayan Basques are an outlier relative to both neighboring Iberians and North African populations.

Autoregressive integrated moving average (ARIMA) models provide a powerful tool for detecting seasonal patterns in mortality statistics. The strength of ARIMA models lies in their ability to reveal complex structures of temporal interdependence in time series. Moreover, changes in model parameters provide an empirical basis for detecting secular trends and death seasonality patterns. This approach is illustrated by our analysis of changes in the mortality patterns of the population of the town of Es Mercadal on the island of Minorca between 1634 and 1997. These data reveal a transition from an early mortality pattern requiring a complex ARIMA model that accounts for a strong seasonal death pattern and periodic epidemic-related mortality crises to a much simpler 20th-century pattern that can be described by a simple single-parameter ARIMA model. These same data were also analyzed using standard seasonality tests. The results show that the reduction in the number of parameters required to fit the Es Mercadal mortality data coincides with the epidemiological transition in which the predominant causes of morbidly and mortality shift from infectious to degenerative causes.

To assess the paternal history of the Mbyá-Guaraní Amerindians of northeast Argentina, we examined the genetic variation in seven Y-chromosome loci: the binary marker M3 at locus DYS199, and six short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, and DYS393). The most striking finding is the high frequency among the Mbyá-Guaraní of Q3 lineages with the usually rare alleles DYS391*11 and DYS393*11, which could be the result of a founder effect, given the recent history of the population.