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A sárgafejű berke juh egyik változataként nyilvántartott kecskeméti sárgapofájú vagy homoki juhról a mai napig nagyon kevés tudomásunk van. A főként a dél-magyarországi régióban előforduló populációt a kihalás veszélye fenyegeti. Ebben a vizsgálatban a szerzők két gazdaságból 40 egyed mtDNS kontrollrégiójának szekvenciáját határozták meg és elemezték GenBank-i és más őshonos magyar fajták CR-szekvenciáival történő összehasonlítás mellett. Megállapították, hogy a homoki juh sok hasonlóságot mutat más őshonos magyar fajtákkal, ami közös anyai eredetüket bizonyítja. Csekély mértékben előfordult a belső-ázsiai juhoktól eredeztethető C haplocsoport is, ami a homoki juh összetett anyai származását mutatja.

The consideration of the descendance is indispensable in the preservation of endangered animal breeds. The authors compared mitochondrial DNA (mtDNA) control region sequence in three descendant breeds of the extinct Zaupel sheep, firstly. Their investigation was carried out in order to prove the common origin of Waldschaf (Austria), Bovec sheep (Slovenia) and Cikta (Hungary). A total of 118 biological samples were taken from non‐related representatives of the three breeds between 2015 and 2017. A newly designed primer pair was also used to amplify the segment (1180 bp) to be tested. The total number of haplotypes in the whole study population was 49. The majority of which fell into haplogroup B. The significant negative value of the Fu's Fs statistic (Fs statistic = −3.296, p = 0.013) based on haplotype frequencies demonstrated a moderate foreign gene flow. As a novel observation haplogroups C and D appeared in Cikta and Bovec sheep, respectively. The Tajima D‐test value in the entire study population was −0.914 (p > 0.10), meaning that the separation of the three descendant breeds did not cause genetic drift, these are collectively in genetic equilibrium. The genetic information confirmed the common origin of the breeds known from the breed history., This manuscript deals with significant questions of the common root of Zaupel sheep's descendant breeds and investigates these breeds based on mtDNA control region using a novel approach called founder sampling method. Genetic information confirmed the origin of the breeds known from the breed history separation of the three descendant breeds did not cause genetic drift, these are collectively in genetic equilibrium. At the same time, pedigree analysis that determines sampling leads to a more realistic diversity of results.

A retrotransposon insertion in the SILV gene is associated with a peculiar phenotype of dog, known as a merle. It is characterised by various areas of their coat colour becoming diluted due to a malfunction in the eumelanin-producing pigment cells. Recent studies have shown that the exact size of the short interspersed element (SINE) insertion is in correlation with specific phenotypic attributes, but was not able to absolutely confine dogs to a certain colour pattern. Our study focused on the merle variations occurring in the Mudi breed. Altogether, 123 dog samples from 11 countries were tested and genotyped. The exact length of the merle alleles were determined by automated fluorescent capillary fragment analysis. The most frequent merle genotype in this Mudi sample collection was the ‘classic’ merle (m/M: 61.8%), whereas other variants, such as atypical (m/Ma and m/Ma+: 5.7%), harlequin (m/Mh: 13.8%), double merle (M/M: 0.8%) and mosaic profiles (17.9%) were also observed. The practical significance of testing this mutation is that, phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous ‘double merle’ progeny with ophthalmologic, viability and auditory impairments.

The intensity of the merle pattern is determined by the length of the poly(A) tail of a repeat element which has been inserted into the boundary of intron 10 and exon 11 of the PMEL17 locus in reverse orientation. This poly(A) tail behaves as a microsatellite, and due to replication slippage, longer and shorter alleles of it might be generated during cell divisions. The length of the poly(A) tail regulates the splicing mechanism. In the case of shorter tails, the removal of intron 10 takes place at the original splicing, resulting in a normal premelanosome protein (PMEL). Longer tails generate larger insertions, forcing splicing to a cryptic splice site, thereby coding for an abnormal PMEL protein, which is unable to form the normal fibrillar matrix of the eumelanosomes. Thus, eumelanin deposition ensuring the dark color formation is reduced. In summary, the longer the poly(A) tail, the lighter the coat color intensity of the melanocytes. These mutations can occur in the somatic cells and the resulting cell clones will shape the merle pattern of the coat. When they take place in the germ line, they occasionally produce offspring with unexpected color variations which are different from those of their parents.

Equine grass sickness (also known as dysautonomia) is a life-threatening polyneuropathic disease affecting horses with approx. 80% mortality. Since its first description over a century ago, several factors, such as the phenotype, intestinal microbiome, environment, management and climate, have been supposed to be associated with the increased risk of dysautonomia. In this retrospective study, we examined the possible involvement of genetic factors. Medical and pedigree datasets regarding 1,233 horses with 49 affected animals born during a 23-year period were used in the analysis. Among the descendants of some stallions, the proportion of animals diagnosed with dysautonomia was unexpectedly high. Among males, the odds of dysautonomia were found to be higher, albeit not significantly, than among females. Significant familial clustering (genealogical index of familiality, P = 0.001) was observed among the affected animals. Further subgroups were identified with significant (P < 0.001) aggregation among close relatives using kinship-based methods. Our analysis, along with the slightly higher disease frequency in males, suggests that dysautonomia may have a genetic causal factor with an X-linked recessive inheritance pattern. This is the first study providing ancestry data and suggesting a heritable component in the likely multifactorial aetiology of the disease.

A kriminalisztikai célú DNS-vizsgálat tehát mára a bűnüldözés egyik legfontosabb eszköze lett. Szakszerű alkalmazásával fontos információkat szolgáltathat a bűncselekmény elkövetőjéről. Hazánkban az 1990-es években kezdődött meg a forenzikus DNS-vizsgálat. A közlemény célja ennek az eseménydús időszaknak a bemutatása. A közlemény terjedelmi okokból két részben jelenik meg. Az elsőrész a legfontosabb ügyeket, a technológiai fejlődést mutatta be. A tanulmányunk második részében a technikai fejlődés jelenéről, lehetséges jövőbeni útjairól, valamint a DNS-vizsgálatokat érintő jogi szabályozás változásairól szólunk.

The authors studied the present status of Hungarian indigenous sheep breeds based on the genetic background of scrapie resistance. The aim of this investigation was to estimate the relative frequency of prion haplotypes, genotypes and risk categories, as well as to reveal the efficiency of the scrapie eradication programme achieved over the last decade. A novel approach in the characterisation of prion by using its genic variation was also implemented. The authors established that the proportion of deleterious sites (%) can be a useful indicator of the eradication programme. Based on a large sample size, it was confirmed that the scrapie resistance of the Cikta breed is low, and the classification of this breed according to risk category has not improved. However, the frequent genotype ARQ and risk category 3 can also be considered characteristic of the breed. The careful use of these genotypes is permitted and will contribute to the maintenance of breed diversity. The response of prion genic variation to selection for scrapie resistance in the other breeds (Tsigai, Milking Tsigai, White Racka, Black Racka and Gyimes Racka) was definitely successful.

The genetic sexing of animals having long gestation periods offers significant benefits in regard to breeding management among their populations living in captivity. In our study, a new increased-sensitivity PCR method for fetal sexing was developed and tested successfully on elephants, from only a small volume of maternal plasma. Suitable sensitivity was obtained by using short, reduced amplicon lengths with fluorescent labelling for capillary electrophoresis detection. The fundamental principle for this technique was based on the detection of two Y-specific markers (AmelY and SRY), the presence of which indicates the mother is carrying a male fetus and the absence of these markers designates a female fetus. As a reaction control, the X-chromosomal marker (PlpX) was used. To the best of our knowledge, this is the first report on this topic, confirming the presence of fetal cell-free DNA from the plasma of a pregnant captive elephant, and demonstrating a new opportunity for non-invasive assessment in fetal sex determination.

Equine grass sickness (also known as dysautonomia) is a life-threatening polyneuropathic disease affecting horses with approx. 80% mortality. Since it’s first description over a hundred years ago, several factors including phenotypic, environmental, management, climate, and intestinal microbiome) have been associated with increased risk of dysautonomia. But despite the extensive research on dysautonomia, it’s causative factors have yet been identified. A retrospective pedigree and phenotype based genetic epidemiological study was performed to analyze the associations of disease occurrence and the kinship in a Hungarian large scale stud. The pedigree data set containing 1233 horses with 49 affected animals was used in the analysis. The first finding was that among the descendants of some stallions the proportion of affected animals are unexpectedly high, with a maximum of 25% of a stallions descendants affected. Animals with affected siblings have higher odds to be a case (OR: 1.27, 95% CI: 1.01-1.57, p=0.033). Among males in the affected population the odds of dysautonomia is higher than in females (OR: 1.76, 95% CI: 0.95-3.29, p=0.057). Significant familial clustering was observed among the affected animals (GIF p=0.001). Further subgroups were identified with significant (p

Red deer is the most valuable game of the fauna in Hungary, and there is a strong need for genetic identification of individuals. For this purpose, 10 tetranucleotide STR markers were developed and amplified in two 5-plex systems. The study presented here includes the flanking region sequence analysis and the allele nomenclature of the 10 loci as well as the PCR optimization of the DeerPlex I and II. LD pairwise tests and cross-species similarity analyses showed the 10 loci to be independently inherited. Considerable levels of genetic differences between two subpopulations were recorded, and F(ST) was 0.034 using AMOVA. The average probability of identity (PI(ave)) was at the value of 2.6736 × 10(-15). This low value for PI(ave) nearly eliminates false identification. An illegal hunting case solved by DeerPlex is described herein. The calculated likelihood ratio (LR) illustrates the potential of the 10 red deer microsatellite markers for forensic investigations.

In step with the evolution of molecular genetics, the application of non-human biological traces is an intensively researched field in forensic sciences [1]. Recently it has been widely acknowledged that this extended possibility – with associated abilities and pitfalls – for forensic DNA examination can provide innovative results in criminal and civil casework as well as in connection with associative evidence. Depending on the specific species or types of traces, the final results can have very different criminalistics value (e.g., plants, dogs or microbiome of soil traces), but it is unquestionable that non-human DNA has an increasing role in forensic biological evidence [2–4]. However, in contrast to the investigation of human DNA-traces, there currently exist no restrictions concerning DNA loci and privacy of genetic information, and a wide spectrum of genetic information and technologies may be applied. The field is developing with animal rights, international (e.g. CITES) conventions, national regulations and professional recommendations [5–7]. The Hungarian forensic practice on animal DNA examination has been developing since 2000 [8]. The range of cases is sufficiently broad, and includes fatal accidents and animal attacks (case #1) as well as illegal trade cases (case #2). In case of degraded animal hair samples we used two sets of Canine STR markers with shortened amplicons, and species specific primers ( Ursus sp.) for mitochondrial DNA analysis of mixed samples (case #2), respectively. The results supported the evaluation of individualization (case #1), confirming the species identification (case #2).

The synthesis of Heat Shock Protein 70.2 mRNA is also regulated by the Upper Promoter elements of the gene. This promoter region is polymorphic in cattle. These polymorphisms have a major effect on the activity of the mRNA transcription. In a comparison of quantity of transcribed mRNA from the wild type and AP2 mutant allele the wild type can produce 2-3-fold more transcripts.The Hungarian Grey Cattle (HG) and Norwegian Red (NFR) as control breed were genotyped with PCR-RFLP method. Our results showed that the frequencies of alleles in breeds (p(wt)HG = 0.859419, p(wt)NFR = 0.5) are different. The effective response to heat stress in the Norwegian Red seems to be less important than in the Hungarian Grey breed. The extensive keeping in hot and arid region during centuries could have been proved as selection pressure for the heat tolerance.Our results combined with the global climate forecasts emphasize the role of autochthonous, well adopted, heat tolerant breeds in the near future.

Demand for correct and cost-effective genetic-based identification and parentage control has increasing importance in domestic animals, including dogs. In our study the applicability of a canine hyperpolymorphic microsatellite marker — which localized in the WILMS-TF (tumor factor) gene — was examined in mixed breed and purebred canine populations. The redesigned and shortened amplicons were genotyped using an allelic ladder which was constructed from sequence verified fragments. The nomenclature for allele calling based on repetition structures is suitable for international comparisons. Our study justified the potential use and efficiency of the marker D18S12 in parentage control.

Demand for correct and cost-effective genetic-based identification and parentage control has increasing importance in domestic animals, including dogs. In our study the applicability of a canine hyperpolymorphic microsatellite marker - which localized in the WILMS-TF (tumor factor) gene - was examined in mixed breed and purebred canine populations. The redesigned and shortened amplicons were genotyped using an allelic ladder which was constructed from sequence verified fragments. The nomenclature for allele calling based on repetition structures is suitable for international comparisons. Our study justified the potential use and efficiency of the marker D18S12 in parentage control.

As dogs are widespread and popular pets they have overriding importance from criminal point of view. The relevancy exists not only in cases of dog attacks or in traffic accidents, but also the scattered, shaded hairs can often provide indirect evidence in crime scene—person relation as well.

The primary application of STR markers is going to be a tool of high fidelity in forensic genetics, for instance identifying the cognate animal from traces. The microsatellite marker set also helps in the protection of red deer stocks from poaching in Hungary. Moreover, increasing interests of red deer farms have appeared to develop DNA based diagnostics for pedigree analysis. In addition, these loci will be useful in population genetic studies in order to assess the genetic diversity in the Hungarian population of red deer ( Cervus elaphus hippelaphus ). To achieve this goal a parentage control kit is being developed in Hungary in cooperation with academic and governmental institutes.