Molecular diagnosis and frequencies of primary hypolactasia in populations of Russia and neighboring countries

Normally, the ability to digest milk sugar (lactose) is present in every child, but not in every adult. The decrease in lactase synthesis (hypolactasia) results in the inability to digest whole milk. Recent studies of the Finnish population have associated lactase persistence in adults with allele T of the C/T_?13910 polymorphism located upstream of the lactase gene; a 100% correlation of primary hypolactasia with genotype C/C has been proved. In this study, the allele and genotype frequencies of C/T_?13910 were determined in populations of Russia. The frequencies of genotype C/C, varying from 36.6% in Russians to 88.2% in Chukchi, were close to the published medical and epidemiological data on the hypolactasia frequencies in these populations. Genotyping was carried out by three different methods to determine the optimal one. Genotype C/C proved to be the key determinant of primary hypolactasia. It was assumed that DNA diagnosis of genotype C/C provides a predictive test to detect primary hypolactasia long before its clinical manifestation.     

Analysis of the DRD4 gene polymorphism in populations of Russia and neighboring countries

Allele and genotype frequencies of the VNTR polymorphism in the third exon of human DRD4 gene were determined in 544 individuals living in Russia (Russians, Bashkirs, Tatars, and Mordovians) and in the neighboring countries (Kazakhs and Ukrainians). The data obtained were compared with the allele frequency distribution patterns reported for the populations of Eurasia. Similarly to other Eurasian populations, in our population samples R4 allele was prevalent (64 to 87%). The frequency of this allele in the populations of Western Europe constitute 61 to 71%, while in the populations of Asia it varies from 74 to 96%. In this respect, the populations studied occupied the intermediate position. In the samples examined the R7 allele frequency decreased from 7% in Ukrainians to 1% in Bashkirs, while in Kazakhs and Mordovians the allele was absent. This finding was consistent with the R7 allele distribution pattern in the populations of Eurasia, characterized by higher frequency in the West and lower frequency or absence of the allele in the East. In the group of 22 Eurasian populations, the R7 allele frequency negatively correlated with the frequency of the R4 allele (r = -0.86 at P < 0.001). Unlike the R4 and R7 alleles, the frequency of which changed in the eastward direction, the R2 allele frequency distribution displayed slightly expressed latitudinal increase southwards. The DRD4 genotype distribution deviated from the equilibrium in most of the samples examined. In some samples, statistically significant increase of the R2/R2 homozygotes frequency was demonstrated. One of the possible explanations of this phenomenon is assortative mating with respect to phenotypic (behavioral) allele manifestation. The data obtained can serve as the basis for the investigation of the possible role of the DRD4 alleles as the risk factors for the development of alcoholism and other types of addictions.     

Polymorphism of the apolipoprotein E gene (APOE) in the populations of Russia and neighboring countries

Allele and genotype frequencies for the locus encoding apolipoprotein E, involved in the regulation of lipid metabolism (APOE), were evaluated in 16 populations representing 12 ethnic groups (a total of 1103 subjects) from Russia and neighboring countries. In the populations examined, the frequencies of allele epsilon4, which is the risk factor of Alzheimer's disease and coronary heart disease, varied from less than 5 to more than 20%, while the variation of the major epsilon3 allele in these populations ranged from less than 75 to 95%. The frequencies of alleles epsilon3 and epsilon4 were 0.714 and 0.205 in Saami, 0.734 and 0.149 in Maris, 0.841 and 0.122 in Evenks, 0.788 and 0.163 in Buryats, 0.764 and 0.202 in Chukchi, 0.875 and 0.075 in Iranians, 0.956 and 0.044 in mountain-dwellers of the Pamirs, 0.771 and 0.094 in Ukrainians, and 0.795 and 0.091 in Belarussians, respectively. In Russians from different regions of the country, the frequencies of these alleles were 0.728 and 0.139 (Kostroma), 0.795 and 0.105 (Moscow), 0.857 and 0.092 (Rostov-on-Don), and 0.824 and 0.083 (Krasnodar), respectively. The latitudinal distribution of the APOE epsilon3 and epsilon4 allele frequencies in the populations examined was comparable to the frequency distribution pattern of these alleles in other populations of Eurasia.     

Polymorphism of the apolipoprotein E gene (APOE) in the populations of Russia and neighboring countries

Allele and genotype frequencies for the locus encoding apolipoprotein E, involved in the regulation of lipid metabolism (APOE), were evaluated in 16 populations representing 12 ethnic groups (a total of 1103 subjects) from Russia and neighboring countries. In the populations examined, the frequencies of allele ?4, which is the risk factor of Alzheimer’s disease and coronary heart disease, varied from less than 5 to more than 20%, while the variation of the major ?3 allele in these populations ranged from less than 75 to 95%. The frequencies of alleles ?3 and ?4 were 0.714 and 0.205 in Saami, 0.735 and 0.220 in Komi-Izhemts, 0.770 and 0.130 in Komi-Zyryans, 0.771 and 0.149 in Udmurts, 0.734 and 0.149 in Maris, 0.841 and 0.122 in Evenks, 0.788 and 0.163 in Buryats, 0.764 and 0.202 in Chukchi, 0.875 and 0.075 in Iranians, 0.956 and 0.044 in mountain-dwellers of the Pamirs, 0.771 and 0.094 in Ukrainians, and 0.795 and 0.091 in Belarussians, respectively. In Russians from different regions of the country, the frequencies of these alleles were 0.728 and 0.139 (Kostroma), 0.795 and 0.105 (Moscow), 0.857 and 0.092 (Rostov-on-Don), and 0.824 and 0.083 (Krasnodar), respectively. The latitudinal distribution of the APOE ?3 and ?4 allele frequencies in the populations examined was comparable to the frequency distribution pattern of these alleles in other populations of Eurasia.     

Genetic relationships between Indians and their neighboring populations

Using gene frequency data for 18 protein and blood group loci, we studied the genetic relationships of four Indian subcontinent populations (peoples from Punjab, Gujarati, Andhra Pradesh, and Bangladesh) with their neighboring populations (Iranians, Afghans, Sinhalese in Sri Lanka, Nepalese, Bhutanese, Malays, Bataks in northern Sumatra, and Chinese). The results obtained indicate that the four Indian subcontinent populations and the Sinhalese are genetically closer to Iranians and Afghans (Caucasoid) than to the other neighboring Mongoloid populations. Genetic distance analysis shows a clear-cut dichotomy between the Caucasoid and Mongoloid populations.     

Infinite populations and counterfactual frequencies in evolutionary theory

One finds intertwined with ideas at the core of evolutionary theory claims about frequencies in counterfactual and infinitely large populations of organisms, as well as in sets of populations of organisms. One also finds claims about frequencies in counterfactual and infinitely large populations--of events--at the core of an answer to a question concerning the foundations of evolutionary theory. The question is this: to what do the numerical probabilities found throughout evolutionary theory correspond? The answer in question says that evolutionary probabilities are 'hypothetical frequencies' (including what are sometimes called 'long-run frequencies' and 'long-run propensities'). In this paper, I review two arguments against hypothetical frequencies. The arguments have implications for the interpretation of evolutionary probabilities, but more importantly, they seem to raise problems for biologists' claims about frequencies in counterfactual or infinite populations of organisms and sets of populations of organisms. I argue that when properly understood, claims about frequencies in large and infinite populations of organisms and sets of populations are not threatened by the arguments. Seeing why gives us a clearer understanding of the nature of counterfactual and infinite population claims and probability in evolutionary theory.     

Estimation of allele frequencies in ethnically heterogeneous populations

A method for reconstructing allele frequencies characteristic of an original ethnically homogeneous population before the start of migration processes is described. Information on both the ethnic group studied and offspring of interethnic marriages is used to estimate the allele frequencies. This makes it possible to increase the informativeness of the sample, which, in the case of ethnic heterogeneity, depends not only on allele frequencies and the total sample size, but also on the ethnic structure of the sample. The problem of estimating allele frequency in an ethnically heterogeneous sample has been solved analytically for diallelic loci. It has been demonstrated that, if offspring of interethnic marriages with the same degree of outbreeding is added to a sample of the ethnic group studied, the sample informativeness does not change. To utilize the information contained in the phenotypes of the offspring of interethnic marriages, representatives of the population from which migration occurs should be included into the sample. The size of the sample ensuring the preassigned accuracy of estimation is minimized at a certain ratio between the numbers of the offspring of interethnic marriages and the "immigrants." To analyze polyallelic loci, a software package has been developed that allows estimating allele frequencies, determining the errors of these estimates, and planning the sample ensuring the preassigned accuracy of estimation. The package is available free at http://mga.bionet.bionet.nsc.ru/PopMixed/PopMixed.html.     

Gene frequencies in stray cat populations from Vienna

A sampling of 394 cets from Vienna was taken and the gene frequencies for different coat colour loci calculated. Randomness of breeding was tested by the Hardy-Weinberg distribution. A comparison of Viennese data with those of other city populations gives the impression that cat populations of Middle Europe have their own stable gene pool, which differs significantly from North-West Europe, America and Australia.     

Properdin factor B frequencies in four Asian populations

The distribution of Properdin factor B (Bf) phenotypes and their gene frequencies were investigated in four Asian populations (Chinese, Filipino, Thai and Japanese). The frequency of the BfS phenotype in Filipinos (0.717) was significantly lower than that in Chinese (0.900) and Thai (0.889) (p less than 0.01), but not different from the Japanese (0.840). One variant, BfF 0.65 S, was identified in a Japanese subject. Thus, in the Asian populations studied, Bfs frequencies were high and the frequency of variants other than F and S were low.     

MtDNA of Fulani nomads and their genetic relationships to neighboring sedentary populations

Despite the large size of the contemporary nomadic Fulani population (roughly 13 million people), the genetic diversity and degree of differentiation of Fulanis compared to other sub-Saharan populations remain unknown. We sampled four Fulani nomad populations (n = 186) in three countries of sub-Saharan Africa (Chad, Cameroon, and Burkina Faso) and analyzed sequences of the first hypervariable segment of the mitochondrial DNA. Most of the haplotypes belong to haplogroups of West African origin, such as L1b, L3b, L3d, L2b, L2c, and L2d (79.6% in total), which are all well represented in each of the four geographically separated samples. The haplogroups of Western Eurasian origin, such as J1b, U5, H, and V, were also detected but in rather low frequencies (8.1% in total). As in African hunter-gatherers (Pygmies and Khoisan) and some populations from central Tunisia (Kesra and Zriba), three of the Fulani nomad samples do not reveal significant negative values of Fu's selective neutrality test. The multidimensional scaling of FST genetic distances of related sub-Saharan populations and the analysis of molecular variance (AMOVA) show clear and close relationships between all pairs of the four Fulani nomad samples, irrespective of their geographic origin. The only group of nomadic Fulani that manifests some similarities with geographically related agricultural populations (from Guinea-Bissau and Nigeria) comes from Tcheboua in northern Cameroon.     

Comparison of erythrocyte markers gene frequencies in different populations

A comparison of erythrocyte markers (ABO, Rh system) gene frequencies was done by bar code diagrams in populations of variable ethnic origin. The results from missions for the development in Far East Asia (China, Indochina, New Guinea) were compared to well known gene frequencies of the populations living in other regions: inhabitants of the islands of the Pacific ocean, Europeans of New Zealand and Western Europe (France), Europeans of North America, Ameridans of Peru and Bolivia, Somalians of Africa. Polymorphism was observed in immense country very peopled, monomorphism was found in small and isolated region but polymorphism existed in tribes living in very isolated islands.     

Estimates of gene frequencies in two heterotic maize populations

Summary The present study was undertaken to obtain information on average gene frequency in two heterotic populations of maize (Zea mays L.), Mezcla Amarillo Selection (MAS) and J607. Sixty-four male plants were taken in each of the populations and each of these were crossed to a different set of eight plants, four of which belonged to the same population and four to the other population. This resulted in two groups of intra-population (within MAS and within J607) and two groups of inter-population (MAS X J607 and J607 X MAS) progenies. Each group consisted of 256 full-sib progenies on the pattern of the North Carolina Design I mating system. The male plants were selfed to produce 64 S₁ prgenies in each population. The materials were evaluated at two diverse locations, Ludhiana and Gurdaspur, for grain yield, ear length, ear girth, number of kernel rows, plant height, ear height and days to silk. An incomplete block design with two replications were used. The plot consisted of a 5 m long row. Ratios of estimated genetic components of variance and covariance were compared with corresponding theoretical ratios computed for a single locus for various gene frequencies and levels of dominance, and approximate ranges of the gene frequencies and their relative magnitude were worked out in the two populations. The average frequency of favourable genes for plant height was estimated as 0.6 in MAS and 0.8 in J607. For grain yield the average gene frequency was 0.8 to 0.9 in MAS and 0.7 to 0.8 in J607 whereas for ear height it was 0.5 to 0.7 in MAS and 0.4 to 0.6 in J607. The gene frequency in the two populations seemed to be similar for days to silk, ear length, ear girth and kernel rows.     

O-chromosome lethal frequencies in Serbian and Montenegrin Drosophila subobscura populations

Lethal chromosomal frequencies were obtained from three Drosophila subobscura samples from the Mt. Avala (Serbia) population in September 2003 (0.218), June 2004 (0.204) and September 2004 (0.250). These values and those from other Balkan populations studied previously (Petnica, Kamariste, Zanjic and Djerdap) were used to analyze the possible effect of population, year, month and altitude above sea level on lethal chromosomal frequencies. According to ANOVAS no effect were observed. Furthermore, the lethal frequencies of the Balkan populations did not vary according to latitude. This is probably due to the relative proximity and high gene flow between these populations. From a joint study of all the Palearctic D. subobscura populations so far analyzed, it can be deduced that the Balkan populations are located in the central area of the species distribution. Finally, it seems that lethal chromosomal frequencies are a consequence of the genetic structure of the populations.     

Mutant allele frequencies in domestic cat populations in Arkansas and Tennessee

We conducted surveys of mutant allele frequencies of four cat populations in Arkansas and Tennessee during 2002. Our calculations and analyses support that Southwestern cat populations were relatively more genetically similar to each other than compared to cat populations in other areas of North America. However, the cat population of Fort Smith is slightly different from the other cat populations studied in the Southwestern United States. Although there is a clear significant spatial geographic pattern for many mutant coat allele frequencies in the United States and Canada cat populations (d, l, S, and W), our results revealed that there is not a significant isolation-by-distance model affecting these cat populations. Our data also support the historical migration hypothesis because our calculated allele frequencies were genetically similar to cat populations located in ancestral areas of Europe. Different phenograms, including new European cat genetic profiles, showed that the Southwestern cat populations studied are of a clear British origin. Therefore, migration routes of early Arkansas and Tennessee settlers help explain the similarities of allele frequencies among domestic cat populations.     

The survey on cellular and tissue-engineered therapies in Europe and neighboring Eurasian countries in 2014 and 2015

Background aims

With the support of five established scientific organizations, this report, the seventh of its kind, describes activity in Europe for the years 2014 and 2015 in the area of cellular and tissue-engineered therapies, excluding hematopoietic stem cell (HSC) treatments for the reconstitution of hematopoiesis.

Pelage mutant allele frequencies in domestic cat populations of Poland

To determine mutant allele frequencies, surveys of coat phenotypes of the domestic cat (Felis catus L.) were conducted from October 1982 to June 1985 in 23 urban and rural populations of Poland (N = 67-278). The seven gene loci studied included: sex-linked orange (O), agouti (A), tabby (T), full-color expression (D), long hair (L), piebald spotting (S), and dominant white (W). The mutant allele frequencies at these loci are: p(O) = 0-0.139, q(a) = 0.487-0.774, p(Ta) = 0, q(tb) = 0.132-0.451, q(d) = 0-0.332, q(l) = 0-0.220, p(S) = 0.242-0.620, and p(W) = 0. The coefficients of darkness estimated ranged from 0.51 to 0.75, showing no statistically significant differences between urban and rural populations. Of the gene loci studied, only A and S show such differences, with the incidence of alleles a and S being, respectively, significantly higher and lower for urban areas. The relatively great amount of genetic heterogeneity in the cat populations of Poland seems to reflect historical determinants. The Polish data are compared to those from Europe, northern Africa, and western Asia, and geographic patterns in distribution for all of the mutant alleles studied are described.