RESUMEN
According to the Hutterite chronicles, the Habans arrived from Austrian Tyrol, Switzerland, and northernmost Italy and stayed in four regions of Slovakia (Sobotiste, Vel'ké Leváre, Moravský Svätý Ján, Trencín). 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.
Asunto(s)
Cultura , Etnicidad/historia , Filogeografía/historia , Bases de Datos Genéticas , Flujo Génico , Frecuencia de los Genes , Genética de Población , Historia Antigua , Humanos , Italia , Repeticiones de Microsatélite , Polimorfismo Genético , Grupos de Población , Eslovaquia , Estadística como Asunto , SuizaRESUMEN
We assessed association between novel biomarkers of cardiovascular disease and conventional factors in 40 years old subjects (208 men and 266 women) from the general population of Slovakia. FER(HDL) (cholesterol esterification rate in HDL plasma), AIP--Atherogenic Index of Plasma [Log(TG/HDL-C)] as markers of lipoprotein particle size, and CILP2, FTO and MLXIPL polymorphisms, were examined in relation to biomarkers and conventional risk factors. Univariate analyses confirmed correlation between AIP, FER(HDL) and the most of measured parameters. Relations between AIP and CILP2, FTO and MLXIPL were not significant. However, CILP2 was significantly related to FER(HDL) in both genders. In multivariate analysis BMI was the strongest correlate of AIP levels. In multivariate model variability of FER(HDL) was best explained by AIP (R(2) = 0.55) in both genders with still significant effect of CILP2 SNP in men. In a model where AIP was omitted, TG levels explained 43 % of the FER(HDL) variability in men, while in women HDL-C was the major determinant (42 %). In conclusions, FER(HDL) and AIP related to the known markers of cardiovascular risk provide means to express their subtle interactions by one number. Our novel finding of association between CILP2 polymorphism and FER(HDL) supports its role in lipid metabolism.
Asunto(s)
HDL-Colesterol/sangre , Enfermedad de la Arteria Coronaria/sangre , Enfermedad de la Arteria Coronaria/genética , Proteínas de la Matriz Extracelular/genética , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Pirofosfatasas/genética , Adulto , Enfermedad de la Arteria Coronaria/epidemiología , Esterificación , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genética , Prevalencia , Medición de Riesgo , Factores de Riesgo , Eslovaquia/epidemiología , Estadística como AsuntoRESUMEN
In nine population samples from Bulgaria, Croatia, Greece, Hungary, Republic of Macedonia (Skopje and Aromuns from Stip region), Romania, Serbia and Slovakia 12 dermatoglyphic variables have been studied. There are distinct differences between the populations and between males and females. The Macedonian Aromuns are clearly separated from the other populations.
Asunto(s)
Dermatoglifia/clasificación , Dedos/anatomía & histología , Genética de Población , Carácter Cuantitativo Heredable , Piel/anatomía & histología , Factores Socioeconómicos , Europa (Continente) , Europa Oriental , Femenino , Variación Genética , Humanos , India/epidemiología , Masculino , Distribución por SexoRESUMEN
The objective of this study was to examine plasma homocysteine levels and C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism in two ethnic groups from Slovakia. The samples consisted of general Slovak-Romany population (68 men and 81 women) from Southwestern Slovakia and the Slovak-Caucasians (174 men and 177 women) who participated in the CINDI project. The homocysteine levels were examined by HPLC, the analysis of MTHFR genotypes was done by PCR. The Slovak-Romany men (12.0+/-5.6 (S.D.) micromol/l) and women (9.2+/-2.6 microol/l) have significantly lower plasma homocysteine levels (p<0.024 and p<0.00001) when compared to Caucasians (13.3+/-5.1 micromol/l in men and 11.3+/-4.3 micromol/l in women). The genetic equilibrium is assumed for the gene frequencies of the MTHFR polymorphism in both samples. The distribution of MTHFR genotypes did not differ between the two populations (TT 13 vs. 10.6 %; CT 46.6 vs. 41.7 %; CC 40.4 vs. 47.7 %, chí(2)2 = 2.315, df=2, ns). The effect of MTHFR genotypes on homocysteine levels was not confirmed in the Slovak-Romanies and TT homozygosity significantly increased plasma homocysteine levels only in Slovak-Caucasians (11.5+/-4.4 micromol/l, ns; vs. 14.8+/-4.8 micromol/l, p 0.002, respectively). To our knowledge, this is the first epidemiological study in the Romany population examining distribution of the MTHFR genotypes and their effect on homocysteine levels. Further studies are needed to establish the variety of cardiovascular risk factors among Romanies in order to evaluate the significance of particular factors.
Asunto(s)
Etnicidad/genética , Homocisteína/sangre , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético/genética , Adulto , Estatura/etnología , Índice de Masa Corporal , Peso Corporal/etnología , Femenino , Frecuencia de los Genes/genética , Genotipo , Hematócrito , Homocisteína/genética , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético/fisiología , Romaní/genética , Factores Sexuales , Eslovaquia , Relación Cintura-Cadera , Población Blanca/genéticaRESUMEN
Dermatoglyphic traits have been used to assess population structure and affinities of the 91 Habans (Hutterites) and 162 Non-Haban Slovaks. In addition a comparison has been made with other Slovak population samples. Biological distances between individual populations were assessed by means of the Hiernaux distance coefficient. The results show a clear separation of the Habans from the Non-Habans in the same villages as well as from the other Slovak groups. Dermatoglyphic analysis is regarded as noncompatible with the interpretation of the genetic structure.
Asunto(s)
Dermatoglifia , Etnicidad/genética , Frecuencia de los Genes/genética , Genética de Población , Femenino , Ligamiento Genético , Variación Genética , Humanos , Masculino , EslovaquiaRESUMEN
Eleven anthropometric traits, five indices and eight anthroposcopic and behavioural traits have been studied in the population of Medzev, which is located in the region Spis in South-Eastern Slovakia. An attempt has been made to compare the results of the present study with other population groups in Slovakia, particularly with an ethnogenetically related population from North-Eastern Slovakia (Chmel'nica). Barring zygomatic breadth in males, biogonial breadth in females, biacromial breadth und jugomandibular index in both sexes, hair pigmentation, ear lobe attachment and arm folding, the remaining traits show no significant differences between the Medzev and Chmel'nica population. On the whole, these two populations are closer to each other than to any other Slovakian group.
Asunto(s)
Genética de Población , Morfogénesis/genética , Adulto , Anciano , Antropología Física , Antropometría , Brazo/fisiología , Conducta/fisiología , Oído Externo/anatomía & histología , Etnicidad/genética , Femenino , Color del Cabello/genética , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales , EslovaquiaRESUMEN
Phenotype and gene frequencies of three blood group, four serum protein and seven red cell enzyme polymorphisms were examined in 105 individuals from the population of Medzev, South-Eastern Slovakia. Locus and allele specific tests of homogeneity were calculated in order to obtain the pattern of variation. The results indicate considerable genetic differences between this population and another local population of this region (Chmelnica) as well as between the Medzev population and the total population of Slovakia. The possible reasons of the genetic heterogeneity within Slovakia are discussed.
Asunto(s)
Antígenos de Grupos Sanguíneos , Marcadores Genéticos , Análisis de Varianza , Eritrocitos/enzimología , Femenino , Frecuencia de los Genes , Humanos , Masculino , Fenotipo , Polimorfismo Genético , Vigilancia de la Población , EslovaquiaRESUMEN
In Medzev, a village located in South-Eastern Slovakia, the secular variation of two indices of genetic isolation has been studied. It could be seen that this village was highly isolated till the beginning of the 20th century. Both indices show a tendency to increase in the first five decades of this century. For the entire period from 1766-1950 the coefficient of inbreeding estimated by the method of isonymy was found to be F = 0.0074 with different ratios of random (Fr) and non-random (Fn) components in particular periods. The coefficient of inbreeding estimated from the ecclesiastical dispensations for marriages comes to F = 0.0019. The genetic significance of the changes in the population structure of this village will be analyzed in further studies.
Asunto(s)
Etnicidad/genética , Genética de Población , Endogamia , Aislamiento Social , Etnicidad/historia , Genética de Población/historia , Historia del Siglo XV , Historia del Siglo XVI , Historia del Siglo XVII , Historia del Siglo XVIII , Historia del Siglo XIX , Historia del Siglo XX , Historia Medieval , Humanos , EslovaquiaRESUMEN
Dermatoglyphic traits in an endogamous community of the village Chmelnica (North-Eastern part of Slovakia) are reported and their frequency is compared with an average Slovak population. The results of this study demonstrate the regional variability and the particular dermatoglyphic specificity of the investigated population. The most conspicuous are the increased intergender differences in the course of the main lines on the palms, their consequently higher quantitative expression by indices, and the higher quantitative values of total line numbers on fingers that was observed for females of our sample.
Asunto(s)
Dermatoglifia , Variación Genética , Adulto , Femenino , Humanos , Masculino , Caracteres Sexuales , EslovaquiaRESUMEN
The data presented here are on population structure and genetic markers (ABO, RH, MN, HP) in two series of so-called Slovak Romany subethnic groups from a single region (Gemer) in the Southeastern part of Slovakia. The results demonstrate that favourable conditions have existed for population genetic mechanisms operating in isolated populations, namely genetic drift and inbreeding. In addition, an attempt was made to compare the observed data with those available for other Romany populations and for Slovaks.
Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Romaní/genética , Proteínas Sanguíneas/genética , Consanguinidad , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Humanos , Masculino , Fenotipo , EslovaquiaRESUMEN
ABO, RH, MN, Kell, P, Lutheran, Lewis, HP, GC, ACP, PGM1, ADA and ESD markers were studied in 122 Valachian Gypsies from Vinodol in West Slovakia. The Valachian Gypsies represent about 5% of the total number of Gypsies (400,000) living in the Czech and Slovak Republic. The results show that their gene pool differs greatly from the one obtained for other Gypsy populations. Since Valachian Gypsies form an endogamous isolate with a high degree of inbreeding, genetic drift and founder effect might have contributed to this difference.
Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Romaní/genética , Proteínas Sanguíneas/genética , Eritrocitos/enzimología , Frecuencia de los Genes , Marcadores Genéticos , Humanos , Isoenzimas/sangre , Isoenzimas/genética , Fenotipo , Rumanía/etnología , EslovaquiaRESUMEN
In a large pedigree with the autosomal dominant form of Charcot-Marie-Tooth neuropathy type I (CMT 1) segregating in four generations, genetic linkage was studied between this disease and three genetic markers from the centromere region of chromosome 1: Duffy blood group (Fy), salivary and pancreatic isoamylases (AMY 1, AMY 2), and DNA polymorphism at the antithrombin III locus, detected with the probe pAT3c. The lod-scores found do not support linkage between CMT 1 and both Fy and AT 3, since they are negative for all recombination frequencies. Very close linkage could have been excluded. For the AMY polymorphism, the pedigree was not linkage-informative. In agreement with the data from literature, these results support the notion of genetic heterogeneity of CMT 1: in the pedigree under study, the responsible locus is probably not in the centromeric region of the chromosome 1, where it was shown to map to in several other pedigrees. Thus, there seem to exist at least two loci responsible for this type of CMT disease.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Cromosomas Humanos Par 1 , Ligamiento Genético , Atrofia Muscular Espinal/genética , Antitrombina III/genética , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Sistema del Grupo Sanguíneo Duffy/genética , Genes Dominantes , Humanos , Isoamilasa/genética , LinajeRESUMEN
Data are presented on the red cell acid phosphatase (ACP), phosphoglucomutase (PGM1), and adenylate kinase (AK) iso-enzyme distributions in a sample of gypsies (Roms) from Slovakia (Czechoslovakia). The findings of very low Pa (0.289) and PGM11 (0.656) gene frequencies as well as the complete absence of the Pc gene are in accordance with the generally accepted assumption of the Indian origin of European gypsies, and demonstrate that the rate of European admixture in Slovak gypsies is low. The finding of a very high AK1 gene frequency (0.984), on the other hand, contradicts this assumption, but with the limited available data on the iso-enzyme distribution in other gypsy and in Indian populations it cannot readily be explained.