Historical sketch of Slovak Haban (Hutterite) population based on autosomal STR analysis

According to the Hutterite chronicles, the Habans arrived from Austrian Tyrol, Switzerland, and northernmost Italy and stayed in four regions of Slovakia (Soboti?te, Vel'ké Leváre, Moravsky Sv?ty Ján, Tren?ín). There are some communities in western Slovakia that retained their Haban cultural identity and still identify themselves as descendents of the Hutterite population with their own specific customs. Slovak Habans are typical founder population with significant social isolation for which high degree of inbreeding is typical. Present study investigated STR polymorphisms as a powerful genetic tool for population genetic studies. The aim was to perform a comparative, population genetic study based on 15 STR loci widely used in forensic genetics, of the Haban population, the Slovak majority population and the population of Tyrol. We analyzed allele frequencies and other statistical parameters in three selected populations in order to identify groups of specific ethnic origin and establish their genetic relationship. The data set included 110 unrelated Habans and 201 unrelated individuals from the Slovak majority population, as well as allelic frequencies for the population of Austrian Tyrol available in the literature. Population pairwise FST values used as a short term genetic distance between populations showed significant differentiation between the Habans and both reference populations (FST=0.0025 and 0.0042 for comparison with the Slovaks and Austrians, respectively; p<10(-3)). The Slovak Hutterites were demonstrated to be genetically distinct and more closely related to their geographic neighbors than to their historical ancestral population, which may be at least partially explained by gene flow between neighboring Haban and Slovak populations.     

Comparison of Y-STR polymorphisms in three different Slovak population groups

Eleven Y-chromosomal microsatellite loci included in the Powerplex Y multiplex kit were analyzed in different Slovak population samples: Habans (n = 39), Romanies (n = 100) and Slovak Caucasian (n = 148) individuals, respectively, from different regions of Slovakia. The analysis of molecular variance between populations indicated that 89.27% of the haplotypic variations were found within populations and only 10.72% between populations (Fst = 0.1027; p = 0.0000). The haplotype diversities were ranging from 0.9258 to 0.9978, and indicated a high potential for differentiating between male individuals. The study reports differences in allele frequencies between the Romanies, Habans and Slovak Caucasian men. Selected loci showed that both the Romany and Haban population belonged to endogamous and relatively small founder population groups, which developed in relatively reproductive isolated groups surrounded by the Slovak Caucasian population.     

Ethiopian Population Dermatoglyphic Study Reveals Linguistic Stratification of Diversity

The manifestation of ethnic, blood type, & gender-wise population variations regarding Dermatoglyphic manifestations are of interest to assess intra-group diversity and differentiation. The present study reports on the analysis of qualitaive and quantitative finger Dermatoglyphic traits of 382 individuals cross-sectionally sampled from an administrative region of Ethiopia, consisting of five ethnic cohorts from the Afro-Asiatic & Nilo-Saharan affiliations. These Dermatoglyphic parameters were then applied in the assessment of diversity & differentiation, including Heterozygosity, Fixation, Panmixia, Wahlund’s variance, Nei’s measure of genetic diversity, and thumb & finger pattern genotypes, which were inturn used in homology inferences as summarized by a Neighbour-Joining tree constructed from Nei’s standard genetic distance. Results revealed significant correlation between Dermatoglyphics & population parameters that were further found to be in concordance with the historical accounts of the ethnic groups. Such inductions as the ancient north-eastern presence and subsequent admixure events of the Oromos (PII= 15.01), the high diversity of the Amharas (H= 0.1978, F= 0.6453, and P= 0.4144), and the Nilo-Saharan origin of the Berta group (PII= 10.66) are evidences to this. The study has further tested the possibility of applying Dermatoglyphics in population genetic & anthropologic research, highlighting on the prospect of developing a method to trace back population origins & ancient movement patterns. Additionally, linguistic clustering was deemed significant for the Ethiopian population, coinciding with recent genome wide studies that have ascertained that linguistic clustering as to being more crucial than the geographical patterning in the Ethiopian context. Finally, Dermatoglyphic markers have been proven to be endowed with a strong potential as non-invasive preliminary tools applicable prior to genetic studies to analyze ethnically sub-divided populations and also to reveal the stratification mechanism in play.     

Analysis of digital patterns in the Basque valley of Deba: multivariate comparison with other populations

Eighty-six females and 79 males from the Basque valley of Deba were analyzed with respect to their digital patterns using correspondence analysis. We found that there was a significant sexual difference for only one type of pattern, tented arch. Also, this population was compared with other Basque valley populations and with other Spanish populations. We found great variability among Basque subpopulations, despite their supposed common origin. Dermatoglyphic distances for some traits can be interpreted as genetic distances because there is high heritability of these traits. The results of the comparison between the Deba valley population and other Spanish populations showed that the Deba population is markedly distant from the other populations.     

Genomic characterization of Pinzgau cattle: genetic conservation and breeding perspectives

A genome-wide scan of Slovak Pinzgau cattle was prepared for the first time in order to estimate their genetic diversity at a more detailed level compared to previously published studies. The aim of this study was to describe the genetic diversity based on the runs of homozygosity (ROH_s), linkage disequilibrium (LD) and effective population size (N_eLD) using genome-wide data. Moreover, Bayesian clustering algorithms and multivariate methods were used to detect the population structure, potential admixture level and relationship between Austrian and Slovak Pinzgau cattle with respect to a large meta-population consisting of 15 European cattle breeds. The proportion of ROH segments ranged from 0.43 to 1.91% in Slovak Pinzgau, depending on the minimum size of an ROH. The genomic inbreeding coefficients were higher than the pedigree ones possibly due to the limited number of available generations in pedigree data. The observed N_eLD was close to the limit value characterizing the endangerment status, based both on genomic and pedigree data. Population structure within analyzed breeds based on the Wright’s F_ST index, Nei’s genetic distances, and unsupervised as well as supervised analysis has been established. Overall, these analyses clearly distinguished populations based on their origin. A detailed analysis of the introgression of each breed into the Pinzgau breeds prepared using a Bayesian approach showed that the contribution of Holstein cattle in Austrian as well as Slovak Pinzgau was larger than contribution of beef breeds. A possible reason is the recent usage of Holstein sires to increase milk production. There are considerable differences between well-defined regions that clearly distinguish Austrian and Slovak Pinzgau, despite their close common history. Generally, the breeding program of Austrian Pinzgau is more focused on meat production than Slovak Pinzgau, which was clearly reflected in the obtained autozygosity islands. Considering the genetic establishment of Slovak Pinzgau population the genetic potential of the breed is insufficiently used. On a long term, more global breeding program including very close populations will be more efficient providing higher genetic progress and diversity. Established methodology how to distinguish genealogically close populations on high-throughput molecular information based of Slovak and Austrian Pinzgau can be proposed as general for analysis of differences in all highly related breeds.     

Digital dermatoglyphic patterns of Eskimo and Amerindian populations: relationships between geographic, dermatoglyphic, genetic, and linguistic distances.

Dermatoglyphic traits have been used to assess population affinities and structure. Here, we describe the digital patterns of four Eskimo populations from Alaska: two Yupik-speaking villages from St. Lawrence Island and two Inupik groups presently residing on mainland Alaska. For a broader evolutionary perspective, these four Eskimo populations are compared to other Inuit groups, to North American Indian populations, and to Siberian aggregates. The genetic structures of 18 New and Old World populations were explored using R-matrix plots and Wright's FST values. The relationships between dermatoglyphic, blood genetic, geographic, and linguistic distances were assessed by comparing matrices through Mantel correlations and through partial and multiple correlations. Statistically significant relationships between dermatoglyphics and genetics, genetics and geography, and geography and language were revealed. In addition, significant correlations between dermatoglyphics and geography, with linguistic variation constant, were noted for females but not for males. These results attest to the usefulness of dermatoglyphics in resolving various evolutionary questions concerning normal human variation.     

PKU in Slovakia: mutation screening and haplotype analysis

The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak phenylketonuria (PKU) families of Caucasian origin. The predominant mutation in this population sample is R408W, with a frequency of 45.9%. In addition, four other mutations have been identified at relatively high frequencies: IVS12nt1, 10.2%; R158Q, 7.1%; R261Q, 7.1%; R252W, 2.0%. The mutation-haplotype associations correspond to those described in other European populations. The high proportion of mutations (72.4%) amenable to simple rapid detection based on the polymerase chain reaction provides a good basis for direct DNA-diagnosis of PKU in the Slovak population.     

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)

Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 167delT in Ashkenazi Jews, R143W in Africaans and 235delC in Koreans. In this work, DNA samples from 54 unrelated NSHL patients from endogamous and inbred population of Slovak Roms (Gypsies) from Eastern Slovakia were screened for GJB2 mutations. The coding region of the GJB2 gene of patients was sequenced and mutations W24X, R127H, V153I, L90P and V37I were found. In Slovak Romany population, mutation W24X accounts for 23.2%, R127H for 19.4%, 35delG for 8.3%, V153I for 3.7%, L90P for 3.7% and V37I for 0.9% of screened chromosomes. As the W24X mutation was previously found in India and Pakistan, were from the European Romanies originate, it was brought by the European Romnanies from their Indian homeland. The carrier frequency of 35delG was estimated for Slovak non-Romany population to be 3.3%, and for Slovak Romany population to 0.88%. The carrier frequency of W24X varied in different Slovak Romany subpopulations from 0.0% up to 26.1%.     

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb duplication and deletion in the chromosomal region 17p11.2, respectively, and less frequently by other mutations in the peripheral myelin protein 22 (PMP22) gene. Despite being relatively common diseases, they haven't been previously studied in the Slovak population. Therefore, the aim of this study was to identify the spectrum and frequency of PMP22 mutations in the Slovak population by screening 119 families with CMT and 2 families with HNPP for causative mutations in this gene. The copy number determination of PMP22 resulted in the detection of CMT1A duplication in 40 families and the detection of HNPP deletion in 7 families, 6 of which were originally diagnosed as CMT. Consequent mutation screening of families without duplication or deletion using dHPLC and sequencing identified 6 single base changes (3 unpublished to date), from which only c.327C>A (Cys109X) present in one family was provably causative. These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population.     

Quantitative characterization of finger and palm dermatoglyphics in Bulgarians

In the present paper data on finger and palm ridge counts of both hands are reported from representative samples of healthy Bulgarian males and females. Dermatoglyphic prints from both hands of 2431 Bulgarians (1161 males and 1270 females) have been taken in 116 settlements all over the country. The investigated males and females were healthy, not related persons of Bulgarian origin. The results of finger and palm ridge counts include basic statistics and correlations between ridge counts on separate fingers and the correlations between ridge counts in separate interdigital areas. The results, presented together with data on other dermatoglyphic features elaborated and published till now by the same authors for representative samples of Bulgarian males and females, can serve for the set up of a detailed data basis of the dermatoglyphic status of the Bulgarian population. At the same time they could serve as a norm for clinical and medico-biological investigations with theoretical and scientific applied purposes.     

A comparison of dermatoglyphic methodologies in population studies

Use of dermatoglyphics in population studies has been marked by a great deal of methodological variation among investigators. We compare various dermatoglyphic approaches using data derived from four groups in the Kumaon region of India. Dermatoglyphic data included ridge-counts and other quantitative variables, and the classification systems of Cummins and Midlo and Penrose and Loesch. Results were evaluated against anthropometric and serological relationships. No clearly superior approach emerges, although it is generally true that palmar variables exhibit more intergroup heterogeneity than digital variables and produce more reasonable results than the other approaches. The conventional method of treating ridge-counts, that of choosing the larger of the two counts, was the most unsatisfactory of the quantitative approaches, leading to the recommendation that both radial and ulnar counts be retained. We conclude that environmental variation may contribute substantially to intergroup variation.     

Cardiovascular diseases and molecular variants of the renin-angiotensin system components in Slovak population

Cardiovascular diseases associated with molecular variants of individual components of renin-angiotensin system are reported to constitute inherited predisposition in humans. Molecular variant frequencies are race- and population-dependent. We examined frequencies of the M235T variant of angiotensinogen gene and I/D polymorphism of gene for angiotensin-converting enzyme in Slovak population: in hypertensive patients, coronary heart disease (CHD), dilated cardiomyopathy (DCM) and myocardial infarction (MI) patients compared to healthy subjects. Frequency of M235T was significantly increased in hypertensive, CHD and DCM patients compared to controls (0.48 and 0.50 vs. 0.40, p < 0.001). Significant increase in D allele frequency compared to controls was observed in the group of patients after MI (0.58 vs. 0.50, p < 0.001), CHD (0.59 vs. 0.50, p < 0.001) and DCM (0.60 vs. 0.50, p < 0.001). These results correlate with other Caucasian populations. In Slovak population, M235T is associated with increased blood pressure and D allele of ACE gene is associated with MI, chronic CHD and DCM, rather than with hypertension. Our results suggest that in Slovak population, D alelle and M235T variant represent a risk factor for several cardiovascular diseases and these polymorphisms might have a cumulative effect on development of cardiovascular diseases.     

Observations on soil haptorid ciliates (Protozoa,Ciliophora) from Slovakia

The morphology and morphometry of five soil haptorid ciliates (Apospathidium terricola, Diplites telmatobius, Armatoenchelys geleii, Paraenchelys terricola, and Spathidium aciculare), collected from a variety of terrestrial habitats in Slovakia (Central Europe), were investigated using live observation and protargol impregnation. Emphasis was given on the ciliary pattern, the fine structure of dorsal brush, as well as the shape and size of the extrusomes. The Slovak specimens of A. geleii differ considerably from other populations investigated in detail by body size and micronuclei number. Furthermore, the most important difference concerns the number of dorsal brush rows (4 vs. 3). Therefore, it was decided to establish a new subspecies, namely Armatoenchelys geleii barborae ssp. n., for the Slovak population. Shape and nuclear variants of A. terricola and P. terricola are presented and morphometrically characterized. Novel details on the dorsal brush structure of A. terricola and D. telmatobius are reported. Pair formation and exconjugant nuclear reconstruction in P. terricola are described. Two species, namely A. terricola and S. aciculare, are first records for the Holoarctic biogeographic region.     

Apolipoprotein E polymorphism in relation to plasma lipid levels and other risk factors of atherosclerosis in two ethnic groups from Slovakia

The influence of apolipoprotein E (ApoE) genotypes on plasma lipid levels and interaction with other environmental factors was determined in two Slovakian population samples; 146 Romany and 351 Slovak individuals. The two samples differ significantly in the distribution of E3/3 genotypes (p<0.014) and E3/2 (p<0.035). Analysis of variance did not reveal any significant effect of the ApoE genotypes on any of the plasma lipid levels in the Romany individuals. In the Slovak sample the variation in plasma low-density lipoprotein cholesterol (LDL-C) levels was significantly associated with the ApoE genotypes (p=0.012). We detected decreased LDL-C concentrations in males with E2 genotype when compared with E3 and E4 carriers (p=0.008). Further, the E2 genotype was found to be associated with high triglycerides levels (p=0.009). The ethnic samples differ significantly in the prevalence of metabolic syndrome and in the case of males of diabetes. Both the Romany and the Slovak males can be considered as having a more atherogenic profile compared with the females.     

Palmar dermatoglyphics as a means of identifying individuals in a baboon population

Dermatoglyphic patterns provide a reliable, permanent means of identifying individual primates in wild populations. Unlike the conventional marking techniques applied in wildlife biology, they are not prone to fading, loss, or distortion. Nonetheless, they have not been previously used for identification in primate field studies. We report here two simple techniques for recording dermatoglyphs in the field and describe an application of the method to a long-term study of population dynamics among baboons (Papio hamadryas, sensu lato)in central Ethiopia. Members of a baboon population were live-trapped, and replicas made of their palmar dermatoglyphics, in 1973, 1982, 1983, and 1984. By comparing the 1973 set with the later samples, we were able to identify four animals, two of each sex. All had been subadult or newly adult in 1973, as determined by dental eruption. Eleven years after their first capture, both females were still members of the same troop, although this had apparently amalgamated with a neighboring group. Both males had migrated. One had moved from one olive baboon group to another; the other (a hybrid) had moved from the hybrid zone described by Nagel (1973) into an olive troop. Ten animals were identified in both the 1983 and the 1984 samples, and one of these had previously been recorded in both 1982 and 1973. Establishing identity by means of dermatoglyphics promises to be a useful tool in studies where sampling episodes are widely separate in time.     

Dermatoglyphic studies among the two breeding isolates of Gujjars of northwestern India

Dermatoglyphic studies among two breeding isolates of Gujjars (200 individuals from each population) from northwestern India have been carried out. The distribution of phenotypic frequencies of dermatoglyphic features among the Hindu and Muslim Gujjars provides strong evidence that these populations have become distinct in the course of their history. This could have occurred due to the inflow of genes from Muslim invaders and surrounding populations or from the effects of inbreeding and biosocial and geographical isolation of the Muslim Gujjars from their counterpart, the Hindu Gujjars. However, the frequency distribution of dermatoglyphics of the Hindu Gujjars resembles those of the Rajputs, Jats, and Ahirs, suggesting an infrequent inflow of genes from neighboring populations and probably their recent isolation. Sexual dimorphism for dermatoglyphics has also been observed in both Hindu and Muslim Gujjar populations.     

Changes of the body mass index during childhood

This article is devoted to the age changes of the Body Mass Index in Czech and Slovak children from 1.5 to 15 years of age. The anthropological survey was carried out in 1976-1978 in the whole region of the former Czechoslovakia. At the beginning of the research period children with normal weight predominate. After the seventh year of age there is a change and the BMI is increasing. As late as pre-puberty and puberty there is a change in a fractional part of the population, as children with overweight are increasing, more frequently in girls than in boys. However, its presence is not fundamentally increasing up to 15 years. The frequency differences in the different BMI categories between both sexes in the Czech and Slovak populations are only rarely statistically significant.     

Comparative Population Biology of Critically Endangered Dracocephalum austriacum (Lamiaceae) in Two Distant Regions

Our study aims to compare the population dynamics of critically endangered species, Dracocephalum austriacum, in two distant regions (Czech and Slovak Karst) with similar habitat conditions, and to evaluate if conclusions concerning factors affecting population performance in one region could help in understanding species dynamics in the other region. Transition matrix models were used to examine population dynamics of the species. Results show that populations in the Slovak Karst are performing better than populations in the Czech Karst. The transitions contributing most to the population growth rates were those of stasis in the small and large adult plant stage. These transitions are, however, stable between populations and years, suggesting that they are not very sensitive to the ongoing changes. Transitions that contribute most to variations in population growth rate include seed and seedling production by large adult plants, seed germination and stasis and growth of small adult plants. These transitions seem to be affected by habitat conditions (soil depth and bare rock cover), genetic parameters of the populations, climate fluctuations (especially severe droughts), and shrub expansion. The transitions contributing most to the population growth rates are very similar between the regions except for contributions of seedling growth and stasis of large adults. These differences need to be considered before using information about the most important life cycle transitions in other regions. We suggest that similar results would be found for other species with narrow habitat requirements occupying very similar habitats, even in very distant regions.     

Dermatoglyphic analysis as a diagnostic tool in Wilson disease?

Dermatoglyphic analysis was performed in a family with 3 children with Wilson disease. With our findings we could not confirm the results published in two earlier papers by other authors who noted a positive relation between Wilson disease and an increased number of whorls. The practical significance of the findings is discussed.     

The Stroop effect on Slovak-Hungarian bilinguists

We studied the processes of interference vs language automatisms in a group of Slovak-Hungarian bilinguists (N = 19, age 13 years) and compared their performance in the Stroop test with two control groups - Slovak (N = 24) and Hungarian (N = 31) monolinguists of the same age. - The Stroop effect, whose essence is an interfering effect of the meaning of the word on its physical characteristic - colour, proved to be a suitable method in the study of information processing in the semantic memory of bilinguists as well as in determining dominance of one language over the other. Slovak-Hungarian bilinguists showed, as a rule, shorter times in Hungarian and approximated in their performance Hungarian monolinguists. It can be assumed that reaction times in the Stroop test are conditioned not only by interference of the other language but also by language automatisms, whereby interference and speech automatisms are in an indirect correlation. - The results thus indicate that processes of interference and language automatisms cannot be separated. Dominance of one language structure over the other (Hungarian over Slovak) was confirmed not only in our experimental method but also in the subjective rating.