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Introduction Methods Results and conclusion Iran, a country in the Middle East, has several ethnic and ethno‐religious groups and needs its own ethnic‐specific databases for the forensic statistical parameters and allele frequency of STR markers.We have investigated 600 unrelated Turk individuals from four northwestern provinces of Iran using the Identifiler™ system (TPOX, FGA, vWA, TH01, CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, and D21S11). Furthermore, STR allelic frequencies were compared to previously population‐based data.After Bonferroni correction, deviation from Hardy‐Weinberg equilibrium (HWE) was observed in the FGA, TPOX, VWA, and D19S433 loci (P value < 0.05). The combined power of discrimination (CPD) and exclusion (CPE) values for all 15 STR loci were 0.9999999999999999999984 and 0.9999999, respectively. In comparison with Azerbaijani and Turkish populations, there were no significant differences on all STR markers. However, in the Chinese Han population, differences at 13 STR loci were detected. Additionally, comparisons of Fischer genetic distance indices (FST) P‐values did not reveal any statistically significant difference between Northwestern Iran, Azerbaijan and Iran (Fars) populations. PCA and PCoA analyses showed that our population was grouped with different populations in different quarters, showing a positive and negative correlation, respectively. In the NJ and UPGMA phylogenetic trees, Iranian populations were grouped together. These results demonstrated that the given set of STR markers can be confidently used for all identification tests in Northwestern Iran. [ABSTRACT FROM AUTHOR]

Numerous archaeological sites in Bosnia and Herzegovina represent a historical heritage and testify to the rich cultural, social, and political life of medieval Bosnia. Bobovac, the capital of the Bosnian Kingdom after King Tvrtko I's coronation in 1377, featured a royal complex with a palace, church, and fortification. Recent molecular-genetic research on skeletal remains from Bobovac aims to uncover medieval ancestors' customs and genetic origins. Fifteen well-preserved teeth samples from Bobovac were processed. STR amplification employed PowerPlex® Fusion and Investigator® 24plex QS Kits, with Y-STR profiles generated using the PowerPlex® Y23 System. Fourteen partial autosomal STR profiles were obtained, enabling sex determination and kinship analysis. STR amplification success varied due to ancient DNA degradation, with larger loci showing lower amplification rates. Kinship analysis confirmed appropriate marker selection, demonstrating high reliability for determining close relationships. Integrating aDNA analysis with archaeological research enhances our understanding of historical populations, connecting archaeology and forensic genetics to contribute to the broader narrative of human history. [ABSTRACT FROM AUTHOR]

Purpose: To present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT. Methods: PGT was performed for two unrelated couples from the Republic of Sakha (Yakutia) with the risk of SCA1 in one spouse. We have developed a system for PGT of a monogenic disease (PGT-M) for SCA1, which includes the analysis of a panel of 11 polymorphic STR markers linked to the ATXN1 gene and a pathogenic variant of the ATXN1 gene using nested PCR and fragment analysis. IVF/ICSI programs were performed according to standard protocols. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) and array comparative genomic hybridization (aCGH) for aneuploidy testing (PGT-A). Results: Eight STRs were informative for the first couple and ten for the second. Similarity of the haplotypes carrying pathogenic variants of the ATXN1 gene was noted. In the first case, during IVF/ICSI-PGT, three embryos reached the blastocyst stage and were biopsied. One embryo was diagnosed as normal by maternal STR haplotype and the ATXN1 allele. PGT-A revealed euploidy. The embryo transfer resulted in a singleton pregnancy, and a healthy boy was born. Postnatal diagnosis confirmed normal ATXN1. In the second case, two blastocysts were biopsied. Both were diagnosed as normal by PGT-M, but PGT-A revealed aneuploidy. Conclusion: Birth of a healthy child after PGT for SCA1 was the first case of successful preimplantation prevention of SCA1 for the Yakut couple and the first case of successful PGT for SCA1 in Russia. [ABSTRACT FROM AUTHOR]

Numerous archaeological sites in Bosnia and Herzegovina represent a historical heritage and testify to the rich cultural, social, and political life of medieval Bosnia. Bobovac, the capital of the Bosnian Kingdom after King Tvrtko I's coronation in 1377, featured a royal complex with a palace, church, and fortification. Recent molecular-genetic research on skeletal remains from Bobovac aims to uncover medieval ancestors' customs and genetic origins. Fifteen well-preserved teeth samples from Bobovac were processed. STR amplification employed PowerPlex® Fusion and Investigator® 24plex QS Kits, with Y-STR profiles generated using the PowerPlex® Y23 System. Fourteen partial autosomal STR profiles were obtained, enabling sex determination and kinship analysis. STR amplification success varied due to ancient DNA degradation, with larger loci showing lower amplification rates. Kinship analysis confirmed appropriate marker selection, demonstrating high reliability for determining close relationships. Integrating aDNA analysis with archaeological research enhances our understanding of historical populations, connecting archaeology and forensic genetics to contribute to the broader narrative of human history.

On the basis of 16 microsatellite markers, the genetic structure of the domesticated reindeer of two breeds, Evenk and Even, bred on the territory of the Central Siberian Plateau and adjacent territories, was studied. Genetic flows between modern domesticated reindeer populations of the two breeds were analyzed. Significant differences were found between the Evenk taiga and Even breeds of domestic deer. Using a historical sample from the middle of the last century, a high degree of stability in time of the gene pool of domesticated populations was revealed. It has been established that genetic flows between wild and domesticated forms in the study area are insignificant. Statistically significant genetic differences between wild and domesticated reindeer populations are shown. [ABSTRACT FROM AUTHOR]

The aim was to ascertain the genetic and geographical structure of the Kyrgyz mountain merino (KMM). We analyzed DNA samples of 109 Kyrgyz mountain merino specimens, bred in three state breeding factories (STB), including“Orgochor” in the Issykul Province,“Katta-Taldyk” in the Osh Province and STb named after Luschikhin in the Talas Province. We identified 126 alleles in 12 microsatellite markers (McM042, INRA006, McM527, ETH152, CSRD247, OarFCB20, INRA172, INRA063, MAF065, MAF214, INRA005, INRA023). There were 6 to 16 alleles in each locus (mean 10.500 ± 0.957 alleles per locus). We identified 67 rare alleles (prevalence less than 5.0 %), which made up 53.2 % of all alleles found. The greatest number of rare alleles was found in STR-markers of CSRD247, INRA023, INRA005, INRA006, MAF214 and OarFCB20. For each group, there were individual differences in the distribution of allele frequencies across all the STR loci studied. The most significant of them were as follows: with regard to the McM042 locus, allele 87 was major in the TALAS and OSH groups (35.6 and 45.7 %, respectively), whereas allele 95 was major in the ISSYK-KUL group (36.2 %); allele 154 was major in all groups with regard to the INRA172 locus, but it was 1.25 times less prevalent in the ISSYK-KUL and 1.66 times less prevalent in the OSH groups compared to TALAS (55.2 and 41.4 %, respectively), whereas alleles 156 and 158 were found only in the ISSYK-KUL group. Considering the ETH152 locus, 186 allele prevalence in the TALAS group was 51.1 %, but allele 190 was also markedly prevalent in the ISSYK-KUL and OSH groups, 34.5 and 34.3 %, respectively. The genetic division of the studied groups of KMM (with K from 3 to 10) was homogeneous – the contribution of each subcluster was equivalent. The AMOVA analysis revealed that the groups are located equidistantly. To conclude, the genetic diversity of the Kyrgyz mountain merino in three state breeding factories of the Kyrgyz Republic was high and comparable with each other.

The paper presents the process of identifying an unnamed soldier of the Polish armed forces in the west, whose remains were found in a nameless grave at the municipal cemetery in Le Crotoy in France. The Polish Genetic Database of Victims of Totalitarianism team carried out the research in cooperation with the Ministry of Culture and National Heritage. A comprehensive analysis of autosomal and Y-STR markers was performed. Historical, anthropological, and forensic examinations of the remains were also carried out. The items found with the remains were also examined. Identification based on DNA analysis made it possible to restore the identity of the Polish pilot who died on 11 March 1943 near the French coast, F/O Tadeusz Stabrowski. The airman regained his name in 2018, he was about 26 years old at the time of his death and left behind a grieving wife and son in the United Kingdom. The success of identifying the NN remains was guaranteed by the appointment of an interdisciplinary team consisting of specialists in archaeology, anthropology, history, forensic medicine and forensic genetics. The analysis of historical sources allowed to determine 4 missing airmen whose remains could have been buried in the cemetery in Le Crotoy. An interesting aspect of the research was the cooperation with history enthusiasts and fans of Polish aviation, thanks to which it was finally possible to narrow down the group of pilots sought and reach the family of Tadeusz Stabrowski, who submitted comparative material for research. This is the first case of establishing the identity of a Polish pilot killed in France. Many institutions have been involved in the project, including Polish Ministry of Culture and National Heritage (MDiKN), which partially funded the research. [ABSTRACT FROM AUTHOR]

The purpose of this study was to identify paternity relations and increase the likelihood success in DNA identification of biological samples found in mass disasters and criminal events by using the 6-dye GlobalFilerTM amplification kit with 21 autosomal STR loci in our laboratory for validation purpose and routine use. In this regard, swab samples from different regions of Turkey (n=350) were collected and studied. The validation of the GlobalFilerTM Amplification Kit was carried out in accordance with the guidelines published by the Scientific Working Group on DNA Analysis Methods (SWGDAM). Our study was conducted to show the efficacy and performance of the kit for sensitivity, specificity, limit of detection, dynamic range, limit of quantification, stochastic threshold study, reproducibility and repeatability, mixture and contamination study parameters. Validation parameters and population genetics data were calculated by using Arlequin v 3.5.2.2 version. According to our results, SE33 (PM=0.014) locus showed the greatest power of discrimination and TPOX (PM=0.132) has the least power of discrimination power in Turkish population. Combined power of exclusion and combined power of discrimination were calculated as 99.99999963% and 99.99999999%, respectively. In addition, allelic frequencies from our study were compared to previously published population data of Iraq, Saud Arabia, China (Han), USA (Cauc), Iran, Afghan, Azerbaijan, Romania, and South Africa. The study revealed that there was a significant difference between Turkish and South Africa (0.1198) population and no difference was observed for Azerbaijan (0.0097) population. [ABSTRACT FROM AUTHOR]

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris. Eight patients from three unrelated families of different ethnic origin, Kumyk, Turkish Meskhetians, and Ossetian, with X-linked ichthyosis from the North Caucasian Republic of North Ossetia–Alania were examined. NGS technology was implied for searching for disease-causing variants in one of the index patients. Known pathogenic hemizygous deletion in the short arm of chromosome X encompassing the STS gene was defined in the Kumyk family. A further analysis allowed us to establish that likely the same deletion was a cause of ichthyosis in a family belonging to the Turkish Meskhetians ethnic group. In the Ossetian family, a likely pathogenic nucleotide substitution in the STS gene was defined; it segregated with the disease in the family. We molecularly confirmed XLI in eight patients from three examined families. Though in two families, Kumyk and Turkish Meskhetian, we revealed similar hemizygous deletions in the short arm of chromosome X, but their common origin was not likely. Forensic STR markers of the alleles carrying the deletion were defined to be different. However, here, common alleles haplotype is hard to track for a high local recombination rate. We supposed the deletion could arise as a de novo event in a recombination hot spot in the described and in other populations with a recurrent character. Defined here are the different molecular genetic causes of X-linked ichthyosis in families of different ethnic origins sharing the same residence place in the Republic of North Ossetia–Alania which could point to the existing reproductive barriers even inside close neighborhoods. [ABSTRACT FROM AUTHOR]

The paper presents the process of identifying an unnamed soldier of the Polish armed forces in the west, whose remains were found in a nameless grave at the municipal cemetery in Le Crotoy in France. The Polish Genetic Database of Victims of Totalitarianism team carried out the research in cooperation with the Ministry of Culture and National Heritage. A comprehensive analysis of autosomal and Y-STR markers was performed. Historical, anthropological, and forensic examinations of the remains were also carried out. The items found with the remains were also examined. Identification based on DNA analysis made it possible to restore the identity of the Polish pilot who died on 11 March 1943 near the French coast, F/O Tadeusz Stabrowski. The airman regained his name in 2018, he was about 26 years old at the time of his death and left behind a grieving wife and son in the United Kingdom. The success of identifying the NN remains was guaranteed by the appointment of an interdisciplinary team consisting of specialists in archaeology, anthropology, history, forensic medicine and forensic genetics. The analysis of historical sources allowed to determine 4 missing airmen whose remains could have been buried in the cemetery in Le Crotoy. An interesting aspect of the research was the cooperation with history enthusiasts and fans of Polish aviation, thanks to which it was finally possible to narrow down the group of pilots sought and reach the family of Tadeusz Stabrowski, who submitted comparative material for research. This is the first case of establishing the identity of a Polish pilot killed in France. Many institutions have been involved in the project, including Polish Ministry of Culture and National Heritage (MDiKN), which partially funded the research.

Northern reindeer breeding is the basis of the cultural and economic complex of the indigenous peoples and ethnic groups of the north of Russia. The study of breeds and intrabreed types of domestic reindeer and their genetic structure to a large extent helps to solve the problem of supporting the traditional way of life of this part of the population of our country. To study the genetic differentiation and phylogeny of populations of the Nenets breed of reindeer (Rangifer tarandus L.), we used a test system based on multiplex PCR analysis of 16 highly polymorphic STR markers: Rt6, BMS1788, Rt30, Rt1, Rt9, FCB193, Rt7, BMS745, C143, Rt24, OheQ, C217, C32, NVHRT16, T40, and C276. Using the developed test system based on the Laboratory of Comparative Animal Genetics of the Institute of General Genetics, 228 animals from four samples of the same breed from different farms of the Russian Federation were examined. For 16 microsatellite loci, 132 alleles were identified, ranging from 2 alleles (locus C217) to 16 alleles (locus OheQ). The average number of alleles per locus for all samples was 8.25. No significant deviations from the Hardy–Weinberg equilibrium (p-value < 7.8 × 10–4 with Bonferroni correction) were observed for the "sample–locus" combinations. For four populations of the Nenets breed of reindeer, 85 alleles for microsatellite loci are common. In total, 16 unique alleles were found: KhMAO–Yugra, Beloyarsk district, village of Nunto (Nen.HMAO)—7; YaNAO, Salekhard and Priuralsky district (Nen.YamSHOS)—4; YaNAO, the upper reaches of the Hanmei River (Nen.YaNAO)—3; NAO, the western part of the Bolshezemelnaya Tundra (Nen.NAO)—2. The analysis of microsatellite variability revealed the levels of multilocus heterozygosity and allelic diversity, as well as the degree of inbreeding. According to the indicator of allelic diversity (Ar), deer from the Yamal experimental station stand out with a value of 6.25, while in animals from the SPK ERV, the value was 5.85. In general, despite the presence of inbred animals in the samples, we can talk about a low level of inbreeding depression in the studied populations of Nenets reindeer. [ABSTRACT FROM AUTHOR]

In paternity testing, the adopted rule is to exclude paternity when mismatch at more than two STR loci is observed. Here we present two routine DNA paternity testing cases with two autosomal STR mismatches between the alleged father and female child, where we employed X-STR analysis to confirm or exclude paternity. Mismatches at D16S539 and D18S51 loci in the Case 1 and D8S1179 and FGA loci in the Case 2 were detected using PowerPlex® Fusion System. X-STR analysis using Investigator® Argus X-12 kit yielded one inconsistency at DXS10135 locus between the child and the alleged father in the Case 1, whereas we found a complete match at all 12 analysed X-STR loci in the Case 2. As a result, paternity was confirmed in both cases. Conclusively, this case study indicates that including an additional analysis has a great importance in solving paternity cases with inconclusive results of autosomal STR analysis. [ABSTRACT FROM AUTHOR]

Cheap pasture fodder and a long grazing season are favorable for cattle breeding in the Dagestan Republic of Russia. However, specific natural and geographical conditions, including mountain terrain, hypoxia, and high humidity slow down the intensification of cattle breeding in this region. Thus, the maintenance of genetic diversity of local cattle breeds, which fits well into specific environments, is of special importance for mountain ethnic communities. Dagestan Mountain cattle have valuable biological traits, including strong hooves, stamina, and adaptability to extreme mountain conditions. This sample included 32 individuals of Dagestan Mountain cattle collected from private owners in the mountain villages of Dagestan during a scientific expedition. We observed a high level of genetic diversity in Dagestan Mountain cattle, as revealed by calculations of the mean number of alleles per locus (6.82 compared to 4.79–5.82 in other breeds) and observed heterozygosity indices (Ho = 0.73, which was higher compared to the other breeds (Ho = 0.69) excluding Simmentals and Brown Swiss (Ho = 0.74). Based on STRUCTURE results, the individuals with a low level of admixture with other breeds were found within Dagestan Mountain cattle, which can be considered as candidates for using conservation programs in germplasms. [ABSTRACT FROM AUTHOR]

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris. Eight patients from three unrelated families of different ethnic origin, Kumyk, Turkish Meskhetians, and Ossetian, with X-linked ichthyosis from the North Caucasian Republic of North Ossetia–Alania were examined. NGS technology was implied for searching for disease-causing variants in one of the index patients. Known pathogenic hemizygous deletion in the short arm of chromosome X encompassing the STS gene was defined in the Kumyk family. A further analysis allowed us to establish that likely the same deletion was a cause of ichthyosis in a family belonging to the Turkish Meskhetians ethnic group. In the Ossetian family, a likely pathogenic nucleotide substitution in the STS gene was defined; it segregated with the disease in the family. We molecularly confirmed XLI in eight patients from three examined families. Though in two families, Kumyk and Turkish Meskhetian, we revealed similar hemizygous deletions in the short arm of chromosome X, but their common origin was not likely. Forensic STR markers of the alleles carrying the deletion were defined to be different. However, here, common alleles haplotype is hard to track for a high local recombination rate. We supposed the deletion could arise as a de novo event in a recombination hot spot in the described and in other populations with a recurrent character. Defined here are the different molecular genetic causes of X-linked ichthyosis in families of different ethnic origins sharing the same residence place in the Republic of North Ossetia–Alania which could point to the existing reproductive barriers even inside close neighborhoods.

The analysis of ancient DNA recovered from skeletal remains is routinely used for identification and individualization of long‐deceased persons mainly through the reconstruction of familial relationships. Such ancient genetic analyses have been conducted on archaeological material excavated at late mediaeval necropolis Kopošići (Ilijaš near Sarajevo, Bosnia and Herzegovina) dating from the 14th to 15th centuries AD. The genetic study included the analysis of nuclear short tandem repeats (STRs) and Y‐chromosomal short tandem repeats (Y‐STR) markers from four skeletons buried under the stećak tombstones. Under one stećak with two rosettes, the decapitated skeleton of an unknown identity was found. Although there were no historical records where the great Bosnian prince Mirko Radojević was buried, obtained DNA results suggested his identity. Association of Y‐haplogroups of skeletal remains to the two most common Y‐haplogroups in the population of Bosnia and Herzegovina indicates the consistency of genetic markers over hundreds of years as well. [ABSTRACT FROM AUTHOR]

Purpose: Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method: PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results: Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion: These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number: N-20180001 [ABSTRACT FROM AUTHOR]

Cheap pasture fodder and a long grazing season are favorable for cattle breeding in the Dagestan Republic of Russia. However, specific natural and geographical conditions, including mountain terrain, hypoxia, and high humidity slow down the intensification of cattle breeding in this region. Thus, the maintenance of genetic diversity of local cattle breeds, which fits well into specific environments, is of special importance for mountain ethnic communities. Dagestan Mountain cattle have valuable biological traits, including strong hooves, stamina, and adaptability to extreme mountain conditions. This sample included 32 individuals of Dagestan Mountain cattle collected from private owners in the mountain villages of Dagestan during a scientific expedition. We observed a high level of genetic diversity in Dagestan Mountain cattle, as revealed by calculations of the mean number of alleles per locus (6.82 compared to 4.79–5.82 in other breeds) and observed heterozygosity indices (Ho = 0.73, which was higher compared to the other breeds (Ho = 0.69) excluding Simmentals and Brown Swiss (Ho = 0.74). Based on STRUCTURE results, the individuals with a low level of admixture with other breeds were found within Dagestan Mountain cattle, which can be considered as candidates for using conservation programs in germplasms.

Mutations in SOD1 cause approximately 12–25% of familial ALS and ≈2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin. [ABSTRACT FROM AUTHOR]

To study the genetic differentiation and phylogeny of the breeds and populations of reindeer (Rangifer tarandus L.), a test system based on multiplex PCR analysis of 16 highly polymorphic STR markers (Rt6, BMS1788, Rt30, Rt1, Rt9, FCB193, Rt7, BMS745, С143, Rt24, OheQ, С217, С32, NVHRT16, T40 and C276) was developed. Using this test system, 397 animals from 11 samples were studied. Four of these samples belonged to the wild forms of reindeer, while the rest of the samples represented the Nenets, Even, and Evenk breeds reared in different climatic zones of the Russian Federation. For 16 microsatellite loci, 204 alleles were identified, some of which could be considered breed-specific. It was demonstrated that more than 70% of the unique allele pool was concentrated in wild populations of reindeer. Statistical analysis of microsatellite data showed that the developed test system was an effective tool for identifying domesticated and wild forms of reindeer, testing the breed assignment, and determining the migration flows of a species over the vast territory of its distribution. [ABSTRACT FROM AUTHOR]

Reduction of minimal residual disease to undetectable levels is the key criterion for efficiency of allogeneic hematopoietic stem cell transplantation (alloHSCT), along with engraftment of transplanted cells with complete replacement of recipient hematopoiesis, i. e., full posttransplant chimerism. Among different approaches, molecular genetic techniques are preferable, being based on the analysis of highly polymorphic DNA sequences (short tandem repeats, STRs). However, this approach, despite its high specificity, has a limited sensitivity. In this regard, it seems appropriate to introduce more sensitive diagnostic solutions, in particular, analysis of insertion/deletion (InDel) polymorphisms, followed by real-time detection of PCR products. The data obtained upon analysis of several genetic markers have shown higher sensitivity of this method. However, the deviations in the range of 10 to 90 % in evaluation of the cell ratios indicates the feasibility of using this approach just to evaluate the residual populations of recipient cells.

Creating a robust set of hypervariable genetic markers for a species to assist forensic investigations regarding individualization and geographic assignment is both time and resource intensive. Yet, benefit can be maximized if the marker set has applicability in other closely related species of regulatory significance. We report a pilot study in which 24 short tandem repeat (STR) loci, developed to assist forensic investigations involving the Australian carpet python (Morelia spilota), have been assayed in six Australian and six Australasian python species of forensic and regulatory significance to investigate their utility in a much wider range of criminal investigations involving Australasian pythons. Eight of the 12 species showed amplification success at ten or more loci, indicating great potential for forensic investigations of Australasian python species without the requirement of further expensive marker characterization. A potential multiplex marker set is suggested for laboratories that are likely to encounter many of these species in forensic investigations. The results lay the foundation for wider application of effective regulatory and investigative tools, relevant to a large range of Australasian pythons of forensic significance. [ABSTRACT FROM AUTHOR]

Abstract The 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S944 and D22S264 loci. We found loss of heterozygosity (LOH) in D22S941 locus in 2 out of 20 families (10%) with 2 offspring affected by ASD combined with PS and TOF respectively. No LOH found in D22S944 and D22S264 loci either in affected cases or control group and no LOH found in D22S941 in the control group. Also we observed that D22S944 locus prone to be less allele diversity than D22S941 and D22S264 loci. [ABSTRACT FROM AUTHOR]

Small ruminant lentiviruses (SRLVs) are an heterogeneous group of viruses of sheep, goat and wild ruminants, responsible of lifelong persistent infection leading to a multisystem chronic disease. Previous studies suggested the presence of genetic factors that could influence SRLV individual resistance. The objective of this study was to make a first association study between SRLV-resistant or SRLV-susceptible goats and 12 STR markers in a herd of Garfagnina breed goats relieved in Tuscany (Italy). Blood samples were collected from 48 adult goats. Diagnosis of SRLV infection was achieved by serological analysis (21 positive and 27 negative). Association analysis revealed for the first time that ETH10 locus was weakly associated with the infection. [ABSTRACT FROM AUTHOR]

Population data of the Aymara in the province of Puno were established for 23 autosomal STR markers. DNA was obtained from unrelated individuals (n = 190) who reside in three areas of the Floating Islands of Lake Titicaca, residents on the border with Bolivia and residents who are not from the border with Bolivia. The PENTA E marker presented the highest PD (0.9738), PIC (0.8793), and PM (0.7847) values. The combined PD was greater than 0.99999999 and the combined PE was 0.99999994. The largest distance, based on Fst values, was between the Aymara population and the Ashaninca population (0.04022), and the smallest distance was with the populations of Bolivia (0.00136) and Peru (0.00525). [ABSTRACT FROM AUTHOR]

Here, we report on four cases of kinship testing among close relatives, including three "twin" cases, where we examined the type of kinship between twins' offspring - full sibship, firstdegree relationship or half sibship, and on one complex kinship case where we were primarily requested to determine the probability that two individuals have the same father. In "twin" cases, 23 individuals in total were studied, of which three pairs of monozygous twins with their spouses/partners and with a total of 11 offspring. In the fourth case, samples for DNA analysis were collected from six individuals - Mother and her two daughters/siblings Daughter1a and Daughter2a, Son whose parents are Mother and FatherB, and Daughter2aB whose mother is Daughter2a. After creating pedigree charts, genomic DNA extraction and amplification of 22 autosomal STR markers using PowerPlex®Fusion System, electropherograms for all individuals were successfully generated. In all "twin" cases, paternity testing for 11 offspring of six couples resulted in PP (Probability of Paternity) values higher than 99.9999%, having confirmed the paternity for every descendant of all twin pairs. Kinship analyses involved setting up two opposite hypotheses, comparing the loci and shared allele variants between individuals, and calculating the LR (Likelihood Ratio) and KP (Kinship Probability) values. Full siblings, who have the same parents, displayed the largest number of shared alleles, with LRs significantly higher than other degrees of relatedness. Kinship analyses between twins' descendants showed higher possibility that they are half-siblings, rather than they are first cousins, what is in accordance with the fact that monozygous twins share an identical DNA material, and that their offspring, in genetical sense, share the same parent. Concerning the last case, kinship analysis revealed high probability that Son and Daughter2aB are half-siblings (LR=31.9329, KP=96.9635%) since they have a common father, what was previously determined through trio paternity testing (PPs over 99.99999%). Interestingly, kinship analysis carried on Daughter1a and Son showed 4,5 times higher probability that they are half-siblings contrary to probability of half sibship between Daughter2a and Son (KP=22.29477%). Finally, these results pointed up the importance of using larger number of autosomal STR loci in solving complex kinship cases. [ABSTRACT FROM AUTHOR]

The Polish Konik horse is a primitive native breed included in the genetic resource conservation program in Poland. After World War II, intensive breeding work began, aimed at rebuilding this breed. Now, the whole Polish Konik population is represented by six male founder lines (Wicek, Myszak, Glejt I, Goraj, Chochlik and Liliput). Individuals representing all six paternal lineages were selected based on their breeding documentation. We performed a fragment analysis with 17 microsatellite markers (STRs) recommended by the International Society for Animal Genetics (ISAG). The genetic diversity and structure within the paternal lineages and the whole of the studied group were investigated. The average allelic richness was 6.497 for the whole studied group. The fixation index (FST; measure of population differentiation) was low (about 3%), the mean inbreeding coefficient (FIT) was low and close to 0, and the mean inbreeding index value (FIS) was negative. The mean expected heterozygosity was established at 0.7046 and was lower than the observed heterozygosity. The power of discrimination and power of exclusion were 99.9999%. The cumulative parentage exclusion probability equaled 99.9269% when one parental genotype was known and 99.9996% with both parents’ genotypic information was available. About 3% of the genetic variation was caused by differences in the breed origin and about 97% was attributed to differences among individuals. Our analysis revealed that there has been no inbreeding in the Polish Konik breed for the studied population. The genetic diversity was high, and its parameters were similar to those calculated for native breeds from other countries reported in the literature. However, due to the small number of breed founders and paternal lineages with unknown representation, the population’s genetic diversity and structure should be monitored regularly.

Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes. Within the Department for medical genetics at University Clinical Center of Republic of Srpska, from 2009 to 2016, 5853 prenatal karyotipizations were performed from amniotic fluid. Two cases (0,03%) of tryploid karyotipe were detected during this period. In this report we will present the findings of triploid karyotype 69, XXX in prenatal diagnosis. Origin of those triploid karyotipes was determined using molecular methods at Institute of Forensic Medicine of Republic of Srpska, Banja Luka. One of the detected triploid fetuses originated from twin pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. Using molecular methods, it was determined that one set of chromosomes originated from the mother, and two sets from the father- diandric origin. The other triploid fetus originated from one fetus pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. The first trimester combined test indicated triploid kariotype with digyny origin. Triploid karyotype was confirmed by prenatal karyotipisation, while molecular analysis confirmed digyny origin of this case of triploidy – two sets of chromosomes originated from mother and one set from father. Since cytogenetic analyses are performed from amniotic cells at 16-18 weeks, in order to reduce waiting period, parents should be informed about karyotypisation and DNA profiling from chorionic villi sample at 11-12 weeks as a faster option to get final results .

In this study, allele frequencies were determined in a Peruvian population for application to human identification. A population of 601 unrelated individuals was analyzed (400 individuals with the GlobalFiler Express kit and 201 individuals with the VeriFiler Express kit). The locus with the highest power of discrimination (PD) was SE33 (0.9851, 31 alleles), while the least polymorphic locus was D22S1045 (0.75810, 11 alleles). The PE in a similar fashion ranged from 0.2421 (D22S1045) to 0.7818 (SE33). Under the assumption of independence, the combined PD was > 0.9999999999 while the combined PE = 0.9999999933. When comparing the population studied with different populations of Latin America, the greatest Fst genetic distance was obtained with a Venezuelan population (0.052), and the shortest distance was with a Bolivian and Peruvian population (0.004). [ABSTRACT FROM AUTHOR]

Across Portuguese laboratories of forensic genetics, the 13 STRs from the CODIS system and at least four more STR's (D2S1338, D19S433, Penta D and Penta E) are analyzed. Nevertheless, in complex cases it could be necessary the study of additional genetic markers. Given the lack of population studies regarding 10 new STR - D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D21S2055 -, it's necessary to study their frequencies in Lisbon's population. In this study, samples from 176 individuals, from both genders and from unrelated individuals comprised in forensic investigations in progress at Instituto Nacional De Medicina Legal e Ciências Forenses (INMLCF), were analyzed with the Investigator HDplex Kit (Qiagen). Allele frequencies and statistical parameters were estimated with Arlequin 3.5.2.2 and PowerStat V12. The obtained results for forensic statistical parameters, such as observed and expected heterozygosity, polymorphism information content, power of discrimination, based on single allele frequencies reveal that the Investigator HDplex Kit (Qiagen) is highly informative and can represent an important tool for genetic identification purposes for forensic investigations ongoing at the INMLCF, especially in paternity cases, related to individuals from the great Lisbon area. [ABSTRACT FROM AUTHOR]

The knowledge of relatedness between individuals is central to many studies in population´s genetics. To obtain estimates of relatedness with sufficient accuracy, the number of polymorphic markers and the number of alleles per marker is a crucial factor. Because of their allelic diversity, microsatellites, also known as short tandem repeats (STRs), are often recognized as the most efficient genetic markers (Lynch and Ritland 1999). The aim of our study was to examine the ability of 15 and 22 STR markers included in the Powerplex16 and Powerplex Fusion Kits to detect biological kinship, even in presence of presumptive mutations. The data were taken from 200 paternity cases, trios and duos. Each trio consisted of mother, one child and one alleged father, whereas each duo consisted of the same people without mother´s data. In addition, we analyzed 100 non-paternity cases (half-siblings, full siblings, uncle-niece, grandfatherhood) and we used the Familias program (Egeland, Thore et al) to compute all probabilities and likelihoods. We established a likelihood ratio greater than 10000 to consider our result as certain. The results have shown that all the trio cases could be solved in both situations (15 o 22 STR markers), while in presence of one mutation only were solved all the cases using 22 STR markers, as occurred with the duos. Faced with the presumption of two mutations, none of the results using 15 STR markers was conclusive. Considering that around of 90 percent of cases analyzed into our laboratories are paternity cases (duos and trios), would be more useful to develop a system with markers completely different from all we use instead of the commercial kits with some more STRs. This alternative system could be used only in complex cases (two mutation or deficiency cases). [ABSTRACT FROM AUTHOR]

Abstract Introduction Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+-dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming. Using autozygosity mapping is an effective approach to address this issue. Methods We used two sets of multiplex STR (Short tandem repeat) markers linked to CAPN3, DYSF, SGCA, SGCB, SGCG, SGCD genes following sequencing of the CAPN3 gene. In silico analysis and mutation detection in one hundred ethnically matched healthy individuals were carried out to determine the pathogenicity of novel mutations. Sequence variant interpretation was performed using the American College of Medical Genetics and Genomics (ACMG) guideline. Results Sixteen out of 50 families linked to the CAPN3 gene. In this study, mutations were found in 14 out of 16 families including 4 novel (c.1894A > T, c.567delG, c.2254-2256delAAC, and c.2373C > T) and 9 previously reported mutations consisting of 5 missense (c.2105C > T, c.2243G > A, c.1714C > T, c.291C > A, c.956C > T), 3 splice site (c.2380 + 2 T > G, c.946-2A > G, c.380G > A), and one indel (c.2257delinsAA) mutations. Discussion The c.2105C > T was found to be the most frequent mutation in this study. The results of this study revealed that most cases with splicing, frame shift and nonsense mutations experienced more severe clinical manifestations. Nonetheless, this should be confirmed by further studies on larger sample size. Highlights • Calpainopathy accounts for 32% of all patients in our study. • In our study, most of the mutations were located in exons 19 and 21. • Autozygosity mapping is a good method for gene tracking of heterogeneous disorders. [ABSTRACT FROM AUTHOR]

Abstract: The demographic parameters and Y-chromosomal variation in the Ulchi population, an indigenous ethnic group of Khabarovsk krai, were studied. The demographic portrait was compiled using the data from the books of rural household accounting (7521 records, including 1562 on Ulchi). The structure of the gene pool was characterized for 45 SNP markers of the Y chromosome: 52 DNA samples were analyzed. The total number of Ulchi in the period between the censuses of 1926-2002 showed stable growth (723-2913 individuals) and slightly decreased by 2010 (2765 individuals). The study revealed an imbalance in the sex ratio (SR = 1 : 1.7) and the age structure close to the stationary type and providing a simple type of reproduction of the Ulchi. Analysis of the marital structure demonstrated a high rate of assimilation of the Ulchi by the Russian-speaking population dominant in all places of their compact settlement. Analysis for the SNP markers of the Y chromosomes (23 haplogroups were found) revealed a strong similarity of the Ulchi to the populations of the Amur River region and Okhotsk coast and a relative proximity to the Central Asian populations as given by haplogroup C. Genotyping of five new SNP markers within haplogroup C and 17 STR markers provided a correct phylogenetic analysis of haplogroup C in the Ulchi and neighboring peoples. It did not confirm the powerful gene drift in the Ulchi, which one might expect owing to their low effective size, likely because the Ulchi population was subdivided and thus managed to retain its diversity. However, this analysis revealed traces of intense interaction of the Ulchi with the peoples of the Far East and Central Asia over the past one to three thousand years. Therefore, the results of a recent study of the similarity of the ancient genomes of Primorye with the Ulchi indicate not the uniqueness of the Ulchi but the fact that this ancient gene pool was preserved in a vast milieu of populations of the Far East interlaced with gene flows both with each other and with populations of Central Asia. [ABSTRACT FROM AUTHOR]

Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes. Within the Department for medical genetics at University Clinical Center of Republic of Srpska, from 2009 to 2016, 5853 prenatal karyotipizations were performed from amniotic fluid. Two cases (0,03%) of tryploid karyotipe were detected during this period. In this report we will present the findings of triploid karyotype 69, XXX in prenatal diagnosis. Origin of those triploid karyotipes was determined using molecular methods at Institute of Forensic Medicine of Republic of Srpska, Banja Luka. One of the detected triploid fetuses originated from twin pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. Using molecular methods, it was determined that one set of chromosomes originated from the mother, and two sets from the fatherdiandric origin. The other triploid fetus originated from one fetus pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. The first trimester combined test indicated triploid kariotype with digyny origin. Triploid karyotype was confirmed by prenatal karyotipisation, while molecular analysis confirmed digyny origin of this case of triploidy - two sets of chromosomes originated from mother and one set from father. Since cytogenetic analyses are performed from amniotic cells at 16-18 weeks, in order to reduce waiting period, parents should be informed about karyotypisation and DNA profiling from chorionic villi sample at 11-12 weeks as a faster option to get final results. [ABSTRACT FROM AUTHOR]

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Medieval cemeteries Klisa-Guca Gora, Alihodze and Glavica-Han Bila located in the Travnik area (Travnik, Bosnia and Herzegovina) were archaeologically examined in the period 2011–2014, revealing human skeletal remains of 11 individuals in total. Archaeological skeletal samples, previously deposited in Travnik Homeland Museum (Travnik, Bosnia and Herzegovina) were subjected to genetic analysis. The aim of this research was to test familiar relationship of 11 individuals excavated from three medieval cemeteries and to predict Y-haplogroup for male individuals. In order to perform molecular-genetic characterisation of collected human skeletal remains, two systems of genetic markers were analysed: autosomal and Y-STR loci. Complete or partial data obtained by autosomal STR typing of 11 individuals were subjected to kinship analysis. Male sex was determined in eight samples out of 11. Direct relatives of the "brother-brother" type were detected in one case with high kinship probability (KP) value of 99.99996 %. Complete or nearly complete and usable Y-STR profiles were obtained for six out of eight male individuals. The presence of identical haplotypes at Y-STR loci and results of Y-haplogroup prediction suggest that all male individuals share the same paternal lineage and belong to J2a haplogroup. Overall, this study emphasises the usefulness, efficiency and sensitivity of STR markers in the molecular-genetic characterisation of old skeletal remains as well as the importance of employing additional markers like Y-STRs in archaeogenetic studies, besides traditionally used autosomal STR markers, in order to get a comprehensive information about close and distant relatives, and ancestry. • Kinship determination is important for understanding social habits and structure in past human communities. • Complete or nearly complete autosomal STR and Y-STR profiles were obtained from the archaeological human skeletal remains. • Kinship analysis revealed siblingship between two males with high KP value of 99.99996 %. • Identical haplotypes and Y-haplogroup prediction suggested that all male individuals are related by patrilineal descent. • Employing additional markers is crucial for getting a comprehensive information about close and distant relatives, and ancestry. [ABSTRACT FROM AUTHOR]