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.

There is a need for classifying and conserving local apple cultivars from two main regions in Bosnia and Herzegovina (BH P < 0.001). Analysis of the genetic structure indicates that overall, approximately half of the local apple cultivars from Sarajevo and eastern Bosnia (52% and 45%, respectively) grouped in the RPP1 consisting mainly out of international reference cultivars, whereas the other half grouped in the RPP2 with traditional B&H reference cultivars. Both neighbor joining (NJ) cluster analysis based on Bruvo genetic distance and factorial correspondence analysis (FCA) confirmed the results of the genetic structure analysis. The molecular data show that both apple accessions from Sarajevo and from eastern Bosnia represent an interesting source of diversity, which needs to be conserved.

In order to identify possible mislabeling of the apple accession maintained ex situ in Srebrenik and to gain insight into the genetic structure of the conserved germplasm, 14 accessions from the collection were genotyped using 10 SSR (Simple Sequence Repeats) markers. Obtained SSR profiles were then added to an existing database constructed for previously characterized 24 traditional and 13 international, reference apple cultivars maintained at the same collection. Bayesian analysis implemented in the STRUCTURE program grouped 42 out of 51 analyzed apple accessions (38 traditional and 13 international) into three RPPs (reconstructed panmictic populations) with probability of membership qI higher than 75%. Almost all international, reference cultivars grouped in RPP3, whereas traditional B&H cultivars from the Srebrenik collection grouped in all three RPPs. Large and significant differentiations between all three individual RPPs were detected through the analyses of molecular variance and confirmed with FCA (factorial correspondence analyses). NJ cluster analysis, based on the Bruvo genetic distance, revealed that out of 38 traditional B&H apple cultivars, analyzed in the study, ‘Ljepocvjetka’, ‘Bobovec’ and ‘Bobovec J’ grouped closest to the international reference cultivars. Available date indicates that unlike a large number of B&H apple cultivars which were introduced during the reign of the Ottoman Empire, ‘Ljepocvjetka’ and ‘Bobovec’ were probably introduced at a later date. Cluster analyses also enabled the detection of one synonym and three homonyms within the collection. In four cases, previously conducted identification based on phenotypic analyses was confirmed by genetic analyses. Results of the structure analyses indicate a heterogeneous genetic structure of the analyzed accessions. This characteristic of the B&H apple germplasm could be useful for future breeding programs.

Large scale genetic association meta-analyses showed that neurocan (NCAN) gene polymorphism rs1064395 is susceptibility locus for bipolar disorder. These studies also included patients with bipolar disorder originated from Bosnia and Herzegovina. Followed by theory of shared genetic elements between bipolar disorder and schizophrenia susceptibility, other studies explored several genetic factors with schizophrenia vulnerability as well. In this work, authors investigated the association between previously confirmed bipolar disorder genetic risk factor- neurocan with schizophrenia in a population sample of Bosnia and Herzegovina. Ethical aspects of this research were assessed by Ethics Committee of Clinical Center University of Sarajevo. Blood samples for DNA extraction were taken from the total of 86 patients and healthy individuals who previously signed informed consent. Genotyping for rs 1064395 was done using direct sequencing method. A case-control analysis of common genetic polymorphism within neurocan gene and schizophrenia status in a consecutively sampled patient cohort have been done using Fisher-exact test with odds-ratio calculation. No statistically significant allele and genotype association with disease status was found (p>0.05). Our finding supports the fact that large-scale genetic association studies approach need to be employed when detecting the variants with small additive effect in phenotypes with complex ethiology.

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.

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.

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.