"Synthetic" maps of the Mari gene pool (from immunobiochemical polymorphism data)]

Models of geographic distribution of 33 alleles of 10 loci (AB0, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, GLO1) in the indigenous population of five raions (districts) of Marii El Republic were analyzed by cartographic statistical methods. Based on 33 maps for individual alleles, synthetic maps were constructed; they reflected the general characteristics of the spatial variability of the Mari gene pool. A map of reliability of the synthetic maps was also obtained. This study was the first to use estimates of the reliability of the gene-geographic prognosis for constructing and interpreting the maps of principal components. Synthetic maps of principal components reveal the geography of the main factors that determine the genetic diversity of the Maris. In the map of the first principal component (accounting for 25.5% of the total variation of the Mari gene pool), isolines clearly ran in the latitudinal direction; i.e., the variability exhibited a north-south gradient. The direction of changes reflects the characteristic features of the microevolution of the Mari gene pool, because it differs from the direction of the principal components of in the total Ural gene pool. The second principal component (24.3% of variation) also exhibited a latitudinal gradient in the western part of Marii El. In the eastern part of the republic, isolines drastically change their direction and display a marked west-east gradient. This longitudinal orientation of principal components is characteristic of the Maris in the synthetic maps of the Ural region. Contributions of individual genes in the variation of principal components were analyzed. In proceeding from the geographic space to the space of principal components, it was found that Highland Maris are separated from Meadow Maris not only geographically, but also genetically.     

Structure and diversity of the mitochondrial gene pool of the aboriginal population of Tuva and Buriatia from restriction polymorphism data

The populations of Tuvinians (N = 36) and Buryats (N = 105) were characterized by using the data on mitochondrial DNA (mtDNA) polymorphism. The gene pools of both ethnic groups possessed the mtDNA types belonging to the four main haplogroups, A, B, C, and D, found only in the indigenous populations of Asia and America. The total frequencies of the A, B, C, and D haplogroups in Tuvinians and Buryats were 72.3% and 52.4%, respectively. These values, along with the frequency for Altai populations (57.2%), were highest in the Asian populations studied, indicating that the populations Southern and Eastern Siberia can be considered as ancestral relatives to the ethnic groups of the New World. Analysis of the mtDNA region V polymorphism showed the presence of 9-bp deletion and 4-bp insertion in both populations with frequencies respectively of 13.9 and 5.56% in Tuvinians and 4.8 and 1.9% in Buryats. The frequency of the +AvaII/8249 variant was 11.1% in Tuvinians and 3.81% in Buryats. Analysis of the association between the region V deletion-insertion polymorphism and certain restriction haplogroups pointed to repeated and independent emergence of the 4-bp insertion in Siberia.     

Inferring population parameters from single-feature polymorphism data

This article is concerned with a statistical modeling procedure to call single-feature polymorphisms from microarray experiments. We use this new type of polymorphism data to estimate the mutation and recombination parameters in a population. The mutation parameter can be estimated via the number of single-feature polymorphisms called in the sample. For the recombination parameter, a two-feature sampling distribution is derived in a way analogous to that for the two-locus sampling distribution with SNP data. The approximate-likelihood approach using the two-feature sampling distribution is examined and found to work well. A coalescent simulation study is used to investigate the accuracy and robustness of our method. Our approach allows the utilization of single-feature polymorphism data for inference in population genetics.     

Paleodietary analysis on the prehistoric population of El Hierro (Canary Islands)

In order to deepen our knowledge of the dietary habits of the prehispanic inhabitants of El Hierro, we have determined bone strontium (Sr), manganese (Mn), magnesium (Mg), copper (Cu), zinc (Zn), and calcium (Ca) in 52 human tibiae (23 belonging to males and 20 to females individuals) buried in a single burial cave; in 21 modern individuals who served as controls; and in 11 bones of herbivores found at archeological sites of the Canary Islands. Results suggest that females consumed a more vegetarian diet, although site-corrected Sr/Ca ratio of both males and females speaks for a mixed-diet consumption.     

Paleodietary analysis on the prehistoric population of El Hierro (Canary Islands)

In order to deepen our knowledge of the dietary habits of the prehispanic inhabitants of El Hierro, we have determined bone strontium (Sr), manganese (Mn), magnesium (Mg), copper (Cu), zinc (Zn), and calcium (Ca) in 52 human tibiae (23 belonging to male and 20 to female individuals) buried in a single burial cave; in 21 modern individuals who served as controls; and in 11 bones of herbivores found at archeological sites of the Canary Islands. Results suggest that females consumed a more vegetarian diet, although site-corrected Sr/Ca ratio of both males and females speaks for a mixed-diet consumption.     

Expression of the entoconulid (sixth cusp) on mandibular molar teeth of an Australian aboriginal population

The expression and genetic basis of the entoconulid (sixth cusp) on mandibular molars were examined in a geographically isolated group of aboriginals from Yuendumu in the Northern Territory of Australia. Four grades of trait expression, ranging from trace to small, medium, and large cusps, were defined on dental casts of 399 subjects. Frequencies of occurrence were among the highest reported in human populations. Approximately 80% of dm2s showed the trait, whereas frequencies in the permanent dentition ranged from around 50% on M2 to 70% on M1 and 80% on M3. The degree of expression increased distally along the molar series, with only 3% of dm2s showing large cusps compared with 25% of M3s. Fluctuating asymmetry was highest for M2 and lowest for dm2. No strong evidence for sexual dimorphism in occurrence or degree of expression was found. Based on a quasi-continuous threshold model, a genetic contribution to entoconulid variability was observed that was strongest for M1. Significant associations were noted between entoconulid expression on mandibular molars and metaconule expression on maxillary molars, indicating that similar developmental mechanisms may influence these traits. The entoconulid and the metaconule both provide additional bulk on the distal occlusal surface of molar teeth, an area subjected to early wear during mastication in aboriginals.     

On reconstructing the (once) living population from osteological age data

It is shown how the sex and age distribution of the (once) living population can be calculated from estimated mortalities. Fertility calculations and estimations of the number of children per woman are provided as well. The method is applied to two materials from the Middle Ages: Westerhus and Helgeandsholmen.     

The echinoderms (Echinodermata) from El Salvador

A list of echinoderms from El Salvador (tropical eastern Pacific) is presented. The results were obtained from field surveys (between the years 2000 and 2004), the scarce literature sources, and Internet information. A total of 37 species and six genera are reported. The most abundant echinoderms in rocky shores were: Phataria unifascialis, Echinometra vanbrunti, Holothuria kefersteini, as well as Astropecten armatus in soft bottoms.     

Distribution of a deletion-insertion polymorphism in intergenic region V of mitochondrial DNA among the aboriginal population of Tuva

Mitochondrial DNA region V deletion-insertion polymorphism was examined in three Tuvinian populations inhabiting western, northeastern, and southeastern parts of the republic. The 9-bp deletion was characterized by nonrandom distribution across the Tuva territory: its frequency in the western population (13.37%) was statistically significantly higher than that in the northeastern (4.62%), and southeastern populations, as well as in Mongols, who are territorially and ethnically close to Tuvinians. The insertion mutation in the region V was detected with a frequency of about 3% in two out of the three populations tested.     

Y-chromosome-Specific STR haplotype data on the Rapanui population (Easter Island)

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.     

A dermatoglyphic study of the Kavalan aboriginal population of Taiwan

By the 1970s, a number of dermatoglyphic studies of Taiwan aborigines (Gaoshan nationality) had been published, however in each only a few dermatoglyphic variables were addressed. Since that time, little new research has been conducted. In this study, we collected and analyzed the dermatoglyphs of 100 individuals of Kavalan, a Taiwan aboriginal population, and we reported a wide range of dermatoglyphic variables including total finger ridge count (TFRC), a-b total ridge count (a-b RC), atd angle and axial triradius percent distance (tPD), and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, palmar hypothenar pattern, and simian line. This study is the first comprehensive dermatoglyphic research of any Taiwan aboriginal population.     

Usefulness of single nucleotide polymorphism data for estimating population parameters

Single nucleotide polymorphism (SNP) data can be used for parameter estimation via maximum likelihood methods as long as the way in which the SNPs were determined is known, so that an appropriate likelihood formula can be constructed. We present such likelihoods for several sampling methods. As a test of these approaches, we consider use of SNPs to estimate the parameter Theta = 4N(e)micro (the scaled product of effective population size and per-site mutation rate), which is related to the branch lengths of the reconstructed genealogy. With infinite amounts of data, ML models using SNP data are expected to produce consistent estimates of Theta. With finite amounts of data the estimates are accurate when Theta is high, but tend to be biased upward when Theta is low. If recombination is present and not allowed for in the analysis, the results are additionally biased upward, but this effect can be removed by incorporating recombination into the analysis. SNPs defined as sites that are polymorphic in the actual sample under consideration (sample SNPs) are somewhat more accurate for estimation of Theta than SNPs defined by their polymorphism in a panel chosen from the same population (panel SNPs). Misrepresenting panel SNPs as sample SNPs leads to large errors in the maximum likelihood estimate of Theta. Researchers collecting SNPs should collect and preserve information about the method of ascertainment so that the data can be accurately analyzed.     

A dermatoglyphic study of the Amis aboriginal population of Taiwan

Amis is the largest aboriginal population in Taiwan. The previous dermatoglyphic studies of the Amis only reported limited data. In this study, we collected and analyzed the dermatoglyphs of 200 Amis individuals, and we reported a wide range of dermatoglyphic variables including total finger ridge count, a-b ridge count, atd angle, axial triradius percent distance, and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, and simian line. This study is the first comprehensive dermatoglyphic research of Amis since 1960s, and its dermatoglyphic data will be useful for future research in anthropology, genetics and medicine.     

Mitochondrial DNA polymorphism in populations of aboriginal residents of the Far East

An analysis of mtDNA polymorphism in eight populations of aboriginal residents (N = 519) of the Far East has been performed. The majority of haplogroups revealed in the examined groups were of East Eurasian origin. Haplogroup D was revealed in seven populations and its frequency varied from 2.8% in Koryaks to 28.3% and 28.9% in Nanaians and Evenks, respectively. Chukchi and Koryak populations, which belong to the same language family, exhibited haplogroup G, which has the same motive and indicates the genetic kinship of both populations. The presence of East Eurasian haplogroups A and D with a strong predominance of haplogroup A in Chukchi indicates the closer relationship of this population both with Asian and Canadian Eskimos and northern Atapasks on the other side of Bering Strait. The high level of genetic variability was revealed in populations belonging to the Tungus-Manjur group. The high frequency of east Eurasian haplogroups in Nanaians could result from close historical associations with Siberian Evenks.     

Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese

Mitochondrial DNA (mtDNA) polymorphisms in the D-loop region and the intergenic COII/tRNA(Lys) 9-bp deletion were examined in 180 individuals from all nine aboriginal Taiwanese groups: Atayal, Saisiat, Bunun, Tsou, Rukai, Paiwan, Ami, Puyuma, and Yami. A comparison of 563-bp sequences showed that there were 61 different sequence types, of which 42 types were specific to respective aboriginal groups. D-loop sequence variation and phylogenetic analysis enabled the 180 aboriginal lineages to be classified into eight monophyletic clusters (designated C1-C8). Phylogeographic analysis revealed that two (C2 and C4) of the eight clusters were new characteristic clusters of aboriginal Taiwanese and accounted for 8.3% and 13.9% of the aboriginal lineages, respectively. From the estimated coalescent times for the two unique clusters, the mtDNA lineages leading to such clusters were inferred to have been introduced into Taiwan approximately 11,000-26,000 years ago, suggesting ancient immigrations of the two mtDNA lineages. Genetic distances, based on net nucleotide diversities between populations, revealed three distinct clusters that were comprised of northern mountain (Atayal and Saisiat), southern mountain (Rukai and Paiwan), and middle mountain/east coast (Bunun, Tsou, Ami, Puyuma, and Yami) groups, respectively. Furthermore, phylogenetic analysis of 16 human populations (including six other Asian populations and one African population) confirmed that the three clusters for aboriginal Taiwanese had remained largely intact. Each of the clusters (north, south, and middle-east coast) was characterized by a high frequency of a particular lineage (C4, C2, and 9-bp deletion, respectively). This may result from random genetic drift among the aboriginal groups after a single introduction of all the mtDNA lineages into Taiwan, but another plausible explanation is that at least three genetically distinct ancestral populations have contributed to the maternal gene pool of aboriginal Taiwanese.     

Common polymorphism of peptidase A: Formal genetics and population data

Summary Peptidase A polymorphism was investigated in 83 mother-child pairs and in a population sample of 182 unrelated individuals from southwestern Germany. Hereby the formal hypothesis that there are two common alleles, PepA¹ and PepA⁸, at an autosomal locus PepA, was confirmed. The frequency of the PepA⁸ allele was calculated to be 0.27±0.02.