Mitochondrial DNA (mtDNA) variations were analyzed in a sample of 245 individuals of Bosnian-Herzegovinian population from the area of Northeastern Bosnia (also known as Tuzla region). Haplogroup affiliation was determined using RFLP method (Restriction Fragment Length Polymorphism) analyzing haplogroup-specific markers of mtDNA coding region, characteristic for the main Western-Eurasian haplogroups. Additional analyses of two sequenced hypervariable segments (HVSI and HVSII) of mtDNA control region were performed in order to identify U subhaplogroups. The study revealed that 95.51% of the analyzed individuals belonged to the typical Western-Eurasian haplogroups: H, I, J, K, T U, V, W or X. The most frequent haplogroup in the analyzed population was the haplogroup H (52.65%) which, due to its increased frequency, represents a marking haplogroup of the population of Northeastern Bosnia. The results of intergroup genetic analysis showed that Bosnian-Herzegovinian population is genetically closer to previously studied populations of Herzegovinians (part of Bosnia and Herzegovina), Slovenians and Croats in relation to other neighboring populations located in Southeastern Europe. Our study also suggests that population genetic structure of Tuzla region is dominated by mutations that are classified as "Paleolithic". These mutations were probably brought to the area of northeastern Bosnia through waves of prehistoric and historic migrations, but the impact of any pre-Neolithic, Neolithic or some "later" migrations, with a slightly lower contribution to the genetic structure of this population, also cannot be neglected.
Background: From a demographic and genetic perspective, Bosnia and Herzegovina is interwoven with a number of differentially isolated local populations of indigenous people with different population and religious backgrounds. Aim: In order to estimate their genetic structure, this study investigated the frequencies of 10 Alu polymorphic loci in 10 regional populations distributed across Bosnia and Herzegovina. Genetic differentiation among the three major population groups in Bosnia and Herzegovina was estimated. Subjects and methods: DNA from 506 unrelated individuals was extracted from buccal swabs using the salting-out extraction method. Each DNA sample was PCR-amplified using locus-specific primers. Results: Gene diversity values showed similarity in all analysed populations and ranged from 0.305–0.328. FST values for all loci showed that most variability is found within populations. Overall FST for all loci and AMOVA indicated that most variability was detected within populations. Conclusion: Results of this study are in agreement with the previous studies, indicating that the three populations in Bosnia and Herzegovina have the same genetic background. There is no significant differentiation among regional populations, pointing to absence of geographic influence. The Bosnian population is clearly located within the European gene pool.
There are two major theories for inheritance of Rh blood group system: Fisher - Race theory and Wiener theory. Aim of this study was identifying frequency of RHDCE alleles in Bosnian - Herzegovinian population and introduction of this method in screening for Rh phenotype in B&H since this type of analysis was not used for blood typing in B&H before. Rh blood group was typed by Polymerase Chain Reaction, using the protocols and primers previously established by other authors, then carrying out electrophoresis in 2-3% agarose gel. Percentage of Rh positive individuals in our sample is 84.48%, while the percentage of Rh negative individuals is 15.52%. Inter-rater agreement statistic showed perfect agreement (K=1) between the results of Rh blood system detection based on serological and molecular-genetics methods. In conclusion, molecular - genetic methods are suitable for prenatal genotyping and specific cases while standard serological method is suitable for high-throughput of samples.
The mitochondrial DNA (mtDNA) polymorphisms in Bosnian human population was analyzed by means of hypervariable segment I and II (HVSI and HVSII) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The results suggest that shaping the genetic structure of recent Bosnian population likely to be affected by the expansion from the European glacial refuges area at the end of the Last Glacial Maximum (LGM), postglacial expansions from southwestern refuges of Europe, the Italian Peninsula and the dispersion in periods of more recent historical events, from the East European Plain. Especially interesting feature of the Neolithic expansion in this area is the ancient African/South Asian haplogroup N1a with the HVSI variant 16147G, which is almost absent in Europe. The haplotyps HVSI with variant 16147G suggest the colonization of the Northeast Bosnia region by Neolithic communities in the Early Neolithic period of expansion through Europe, as evidenced by the archaeological remains of the Starcevo culture.
Genetic structure of two human populations, indigenous and migratory population in the area of the Tuzla region, was analyzed with respect to some static and dynamic-morphological properties. The analyzed genetic data were collected by direct observation and survey of 472 pupils of school age. The investigated parameters of genetic heterogeneity were estimated by: analysis of the frequency of recessive phenotypes for every observed property, t-test analysis, and assessment of intragroup variation by analysis of Wahlund variance. Based on the obtained results it was observed that the frequency of the recessive homozygote for most of the analyzed properties was slightly higher in migratory populations. All values obtained by Wahlund variance analysis indicated a small genetic differentiation.
Diversity of nuclear microsatellite markers were analyzed in a reference sample of the population of northeast Bosnia and Herzegovina. 437 samples taken from unrelated individuals were processed and three samples of paternity proof were shown. Detection effectiveness profile of the research, points to a valid choice of method of extraction, amplification and genotyping short tandem repeat (STR) loci with PowerPlextm16 kit. Genetic analysis of allelic variants of the 15 STR loci PowerPlextm16 kit detected 17 samples determined as rare allelic variants or microvariants. Samples were divided into 15 different allelic variants at 7 different loci, and are: in locus D7S820, D16S539, D3S1358, D18S51, PENTA D, PENTA E and in locus vWA. Genetic analysis of mutations in cases of paternity determined three examples of single-step mutations in the loci FGA, Penta D and D3S1358. Genetic analysis of observed STR loci detected three allelic variant of genotype combination 7/10/11.3 in locus D7S820 Type II. Population genetic analysis of STR loci in a representative sample of the population of northeast Bosnia and Herzegovina included the application of the assessment tests of within-population genetic diversity and interpopulation diversity, as well as genetic differentiation between populations: North-eastern Bosnia and Herzegovina (BH) and BH general reference, then the Croatian population, Macedonian, Serbian and Slovenian. Based on the result analysis of specific forensic parameters, it can be assumed that the most informative marker is PENTA E for population genetic analysis and forensic testing in the population of northeast Bosnia and Herzegovina. Research results fit regional STR database of this part of Europe.
MtDNA variations, determined in terms of mtDNA haplogroups, were analyzed, the sample consisted of the human population of Bosnia and Herzegovina from the teritory of the Tuzla region. The analysis included a total of 245 mtDNA samples (kin unrelated individuals). Determination of mtDNA haplogroups was studied by using haplogroup-specific PCR-RFLP markers of a coding region of mtDNA. We observed that 95.11% of investigated individuals in the Tuzla region belong to the Western-Euroasian mtDNA haplogroups: H, V, T, I, J, K, U, X, W. The impact of migratory activities on the population structure of the Tuzla region was estimated by analysis within- and of intergroup genetic differences (index of genetic specificities, pairwise FST analysis and exact-p test) of indigenous and migrant categories (recent, internal, and historical). The analysis showed that a significant demographic influence on the genetic structure of indigenous people was exerted by the category of recent migrants only.
Dermatoglyphic prints were collected from 800 inhabitants of Dukagjin valley in Kosovo. The sample consisted of two ethnically different sub-populations who refer themselves as Albanians (N = 400) and Turks (N = 400). Qualitative analysis of prints concerned the frequency of the patterns on fingers (arch, ulnar and radial loop, whorl, accidental whorl) and on palms (Thenar and I, II, III, and IV interdigital area and the hypothenar, main line index, and the axial "t" triradius position). As was expected due to previous study of quantitative dermatoglyphic traits, in the same population the Alba-nians and Turks showed to be significantly different in most explored qualitative dermatoglyphic variables. Found differences indicated that the reproductive isolation between the Albanian and Turkish population in Kosovo is substantial, despite the fact that those two ethnic sub-populations live in the close vicinity through several centuries.
Propagation mobility data on individual, reproductive couples and studied generations were collected based on the analysis of spatial distance between individual cardinal dots. Elements for analysis were gathered from questionnaire of 1107 primary and secondary school students in Tuzla area. At the same time 2314 families were analyzed. Propagation mobility research of Tuzla Canton population is based on determining distances between geographical dots characteristic for certain families. For this purpose parameters of propagation mobility are defined. There are three different types of these parameters: marital, pre-marital and post-marital mobility. The objective was to determine the degree of propagation mobility in Tuzla's population in four periods. To analyze data a t-test and a questionnaire were used. The results were shown in table and graph. Although there are similarities in migrational movements of the population (isolation of the studied population), each migrational movement is a consequence of several different causes. We could conclude that local population gradually became isolated and that patrilocal residence was the main reason for it. Also, local population showed larger degree of tolerance and acceptance toward female immigrants than to male immigrants. If we analyze marital mobility in two successive generations, we could see that average value marital mobility in the first generation is by 2.13 % bigger than in the second. Patrilocal residence emerges here as the main characteristic of propagation mobility in studied local population as well as gradual stagnation in migrating process. .
The aim of the study was to compare quantitative dermatoglyphic traits of two ethnic groups with different origin and customs, living on the same territory. The dermatoglyphic prints were collected from 800 inhabitants of the Dukagjin valley in southwest Kosovo, of Albanian (400) and Turkish (400) ethnic origin. The quantitative analysis comprised the number of ridges and triradii on the fingers, and the number of ridges in the interdigital areas on the palm (a-b, b-c, and c-d) as well as the size of the atd angle. The statistical analysis showed significant differences between the Albanian and the Turkish males for two fingers and pattern intensity index left, and on palms for a-b rc and c-d rc on both hands and b-c re on the left hand, and between females for six fingers and almost all palmar traits. Significant inter-population variations were observed for most palmar areas in both sexes but more pronouncedly in females. The differences found between the examined population groups show that admixture between Albanian and Turkish population in Kosovo has been small, and the Turks have retained their ethnic identity for several centuries.
The varying nature of individual features in the observed group could be described according to different criteria. Some individual features occur in the compatible form, the other occur in two other forms (subtypes) and the others occur in three or more different subtypes. This work carries the first comprehensible population-genetic analysis fenotypes of the population in Tuzla with regard to complex of six system quantitative fenotype variation of fist. The anthroposcopy of chosen dimorph features includes: the extensiveness of constant nuckle of thumb (dht); the extensiveness of proximate nuckle of thumb (pht); 'digital index' (L); a position of phalang of little finger (rcf); a shape of nails (ln); a hairness of middle digital falang (d). There were 1163 boys totally analysed in elementary schools, who were born in the period between 1980 to 1987. The statistical significant differences of gene frequency was observed between the observed and expected gene frequency. The established values of relative frequency of recessive allelogene (hairness of the medium digital falang qd=0.99; a shape of nails qln=0.57; the extensiveness of proximate ankle of thumb qpht=0.94) in the system of fenotype of the observed complex of variations do not fit in the range of values of this indication of the preferred cluster's samples in the Bosnia and Hercegovina's population. The frequency of other observed fist fenotypes are in the range of qualitative variations for the population of Bosnia and Herzegovina. However, a constant frequency of recessive fenotype (qd - the obsence of hairs on the medium digital falang of the ring finger), in the complete pattern fits in the range of varying value of this parameter in the set of chosen parts of the world population in USA (the Black people qd=0.91).
Modern Bosnia and Herzegovina is a multi-ethnic and multi-religion country, with a very stormy history. Certain archaeological findings indicate continuous population of its territory since the Paleolithic. In time, vast number of different factors jointly influenced fascinating diversity of local human populations. A great number of small, more or less isolated, indigenous populations, make this area quite attractive for population-genetic surveys of different levels and approaches. Austro-Hungarian military physicians conducted the very first known bio-anthropological analyses of Bosnia-Herzegovina population at the end of the 19th century. Thus, the first step towards resolving the genetic structures of local B&H human populations was made. The studies that followed (conducted throughout most of the 20th century) were primarily based on the observation of various phenotypic traits. This stage was followed by the examination of various cytogenetic and fundamental DNA based molecular markers. The efforts undertaken over the last three centuries revealed "human genetic treasure" in Bosnia and Herzegovina. However, even now, after all the studies that were conducted, many interesting features remain to be discovered and described within the existing local human populations.
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