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Here we present 115 whole mitogenomes and 92 Y-chromosomal STR and SNP profiles from a Hungarian ethnic group, the Székelys (in Romanian: Secuii, in German: Sekler) living in southeast Transylvania (Romania). The Székelys can be traced back to the 12th century in the region, and numerous scientific theories exist as to their origin. We carefully selected sample providers that had local ancestors inhabiting small villages in the area of Odorheiu Secuiesc/Székelyudvarhely in Romania. The results of our research and the reported data signify a qualitative leap compared to previous studies, since complete mitochondrial DNA sequences and Y-chromosomal data containing 23 STRs have not been available from the region until now. We evaluated the results with population genetic and phylogenetic methods, in the context of the modern and ancient populations that are either geographically or historically related to the Székelys. Our results demonstrate a predominantly local uniparental make-up of the population that also indicates limited admixture with neighbouring populations. Phylogenetic analyses confirmed the presumed eastern origin of certain maternal (A, C, D) and paternal (Q, R1a) lineages and, in some cases, they could also be linked to ancient DNA data from Migration Period (5th-9thcenturies AD) and Hungarian Conquest Period (10th century AD) populations.

Y-DNA and mtDNA have been a widely used tool not only in forensic genetic applications but in human evolutionary and population genetic studies. Its paternal or maternal inheritance and lack of recombination have offered the opportunity to explore genealogical relationships among individuals and to study the frequency differences of paternal and maternal clades among human populations at continental and regional levels. It is unbelievable, but true, that the disadvantages of paternal and maternal lineages in forensic genetic studies, i.e., everyone within a family have the same paternal or maternal haplotype and haplogroup, become advantages in human evolutionary studies, i.e., reveal the genetic history of successful mothers and successful fathers. Thanks to these amazing properties of haploid markers, they provide tools for mapping the migration routes of human populations during prehistoric and historical periods, separately as maternal and paternal lineages, and together as the genetic history of a population.

Az emberiség történelme szorosan összefügg a népvándorlás történetével. A genetikai sokféleség mintázatai információt nyújtanak a népesség történetéről, mivel minden jelentősebb demográfiai esemény nyomot hagyott a populációk genomiális sokféleségében. Ezek a demográfiai nyomok nemzedékről nemzedékre adódnak át, így a mai emberek genomja demográfiai történetüket tükrözi. A történelmi és régészeti adatok alapján a honfoglaló magyarok keletről érkeztek – hét törzsből álló szövetségben –, és úgy 895 körül véglegesen letelepedtek a Kárpát-medencében. Jelenlegi tudásunk alapján pontosan nem tudjuk megnevezni, hogy a honfoglaló magyarok magja konkrétan melyik földrajzi régióból indulhatott nyugat felé tartó útjára, azonban bizonyos – dél-szibériai eredetű – anyai és apai leszármazási vonalak jelenléte a recens magyar populációkban és a honfoglalás kori régészeti csontmintákban arra enged következtetni, hogy valahol Dél-Szibéria és a mai Mongólia területére mutat. Foglaljuk el képzeletünk repülő léghajóját, amelyről lepillantva láthatjuk, amint ezen feltételezett népcsoport – bizonyára eléggé szervezetten – családjával élte életét a vagyontárgyat képező állatállománnyal együtt és mindig egy kicsit tovább haladhatott – természetesen nyugat felé – a legfrissebb legelőterület kiválasztása miatt. Ki tudja, hány évszázad alatt tették meg az utat a Kárpát-medencéig… Természetesen útközben békésen kapcsolatba kerülhettek más népcsoportokkal, vagy egyeseket meghódítottak, talán behódoltak mások is. Ezen események következtében genetikai állományukba bekerülhettek azon népek genetikai nyomai, akikkel érintkezésbe kerültek, amellett megtartották az eredeti génállományt is. Ha a honfoglalók GPS-koordináták alapján cserkészték volna be a Kárpát-medencét éjjel-nappal menetelve, vagy repülőgépre szálltak volna fel, akkor kizárólag csak az eredeti génállományukat hozták volna az új honba. Talán voltak közöttük „felderítők”, akik előre mentek és kifürkészték, hogy hány napnyi vagy hónapnyi távolságra milyen területek vannak és kik laknak ott, ha egyáltalán a hírekkel visszatértek. Elgondolkodtató, hogy a honfoglalók miért pont a Kárpát-medencében maradtak és miért nem mentek tovább. Legészszerűbb válasz erre az lehetett, hogy meglehetősen alkalmasnak vélték az új területet (folyók, völgyek, alföldek és hegyek) az állatok legeltetésére és földművelésre, ugyanakkor valószínűleg olyan körülmények is közrejátszottak, hogy az új jövevényeket nem üldözték el a helybeliek a kiválasztott honból. Ezzel a kis történettel próbáltam emberközelivé tenni e tudományág szakmai berkeiben esetleg tájékozatlan személyeknek a túl szakmainak tűnő őstörténeti genetikai eredményeket, amelyek a későbbiek során következnek.

Istvan Sandor was a monk and deeply impressed by the spirituality of the Salesian Society. On 24 July 1946 he made his perpetual votes as a Salesian brother. In 1950 the Communist Party banned the operation of religious orders including the Salesian Order. In 1951 the Internal Security Corps was informed about “illegal” activity of Istvan Sandor. He was arrested on 28 July 1952 and sentenced to death by hanging. He was beatified by Pope Francis in 2013. On 12 November 2018 the grave was opened and bones extracted belonging to six individuals. First, forensic anthropological studies were done. For DNA analysis, teeth and right femurs were selected. DNA extraction method was developed by us. Y-chromosomal and autosomal STR profiles were determined from teeth and bones and reference samples. Based on age and height estimates, the bones that could not belong to Istvan Sandor were excluded. The Blessed Istvan Sandor does not have any living relatives. Envelopes and postage stamps were chosen as reference samples from the years 1942 and 1950. We have received full DNA profiles from teeth, but partial profiles from the envelope and the stamp. Genetic investigations performed support the hypothesis that the bone remains, which were exhumed from the mass grave including relics of putative Istvan Sandor, really belong to the Blessed Istvan Sandor who was executed on 08 June 1953 by the Communist Regime.

The great ethnolinguistic diversity found today in mainland Southeast Asia (MSEA) reflects multiple migration waves of people in the past. Deeply divergent East Eurasian hunter-gatherers were the first anatomically modern human population known to migrate to the region. Agriculturalists from South China migrated to the region and admixed with the local hunter-gatherers during the Neolithic period. During the Bronze and Iron Ages, the genetic makeup of people in MSEA changed again, indicating an additional influx of populations from South China. Maritime trading between MSEA and India was established at the latest 300 BCE, and the formation of early states in Southeast Asia during the first millennium CE was strongly influenced by Indian culture, and this cultural influence is still prominent today. Several ancient Indian-influenced states were located in present-day Thailand, and various populations in the country are likely to be descendants of people from those states. To systematically explore Indian genetic heritage in MSEA, we generated genome-wide SNP data (the HumanOrigins array) for 119 present-day individuals belonging to 10 ethnic groups from Thailand and co-analyzed them with published data from MSEA using the PCA, ADMIXTURE,f3-statistics, qpAdm, and qpGraph methods. We found South Asian low-level admixture in various MSEA populations which are probably descendants of people from the ancient Indian-influenced states, but failed to find a South Asian genetic component in present-day hunter-gatherer groups and relatively isolated groups from highlands in Northern Thailand. Our results also support close genetic affinity between Kra-Dai-speaking (also known as Tai-Kadai) and Austronesian-speaking populations, which fits a linguistic hypothesis suggesting cladality of the two language families.Author SummaryMainland Southeast Asia is a region with great ethnolinguistic diversity and complex population history. We studied genetic population history of present-day mainland Southeast Asian populations using genome-wide SNP data (the HumanOrigins array). We generated new data for 10 present-day ethnic groups from Thailand, which we further combined with published data from mainland and island Southeast Asians and worldwide populations. We revealed South Asian genetic admixture in various mainland Southeast Asian ethnic groups which are highly influenced by Indian culture, but failed to find it in groups who remained culturally isolated until recently. Our finding suggests that a massive migration of Indian people in the past was responsible for the spread of Indian culture in mainland Southeast Asia. We also found support for a close genetic affinity between Kra-Dai- and Austronesianspeaking populations, which fits a linguistic hypothesis suggesting cladality of the two language families.

The influence of Viking-Age migrants to the British Isles is obvious in archaeological and place-names evidence, but their demographic impact has been unclear. Autosomal genetic analyses support Norse Viking contributions to parts of Britain, but show no signal corresponding to the Danelaw, the region under Scandinavian administrative control from the ninth to eleventh centuries. Y-chromosome haplogroup R1a1 has been considered as a possible marker for Viking migrations because of its high frequency in peninsular Scandinavia (Norway and Sweden). Here we select ten Y-SNPs to discriminate informatively among hg R1a1 sub-haplogroups in Europe, analyse these in 619 hg R1a1 Y chromosomes including 163 from the British Isles, and also type 23 short-tandem repeats (Y-STRs) to assess internal diversity. We find three specifically Western-European sub-haplogroups, two of which predominate in Norway and Sweden, and are also found in Britain; star-like features in the STR networks of these lineages indicate histories of expansion. We ask whether geographical distributions of hg R1a1 overall, and of the two sub-lineages in particular, correlate with regions of Scandinavian influence within Britain. Neither shows any frequency difference between regions that have higher (≥10%) or lower autosomal contributions from Norway and Sweden, but both are significantly overrepresented in the region corresponding to the Danelaw. These differences between autosomal and Y-chromosomal histories suggest either male-specific contribution, or the influence of patrilocality. Comparison of modern DNA with recently available ancient DNA data supports the interpretation that two sub-lineages of hg R1a1 spread with the Vikings from peninsular Scandinavia. ispartof: European Journal Of Human Genetics vol:29 issue:3 pages:512-523 ispartof: location:England status: published

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

The Roma Diaspora¿traditionally known as Gypsies¿remains among the least explored population migratory events in historical times. It involved the migration of Roma ancestors out-of-India through the plateaus of Western Asia ultimately reaching Europe. The demographic effects of the Diaspora¿bottlenecks, endogamy, and gene flow¿might have left marked molecular traces in the Roma genomes. Here, we analyze the whole-genome sequence of 46 Roma individuals pertaining to four migrant groups in six European countries. Our analyses revealed a strong, early founder effect followed by a drastic reduction of ~44% in effective population size. The Roma common ancestors split from the Punjabi population, from Northwest India, some generations before the Diaspora started, 50% of their genomes. The linguistic and historical differentiation of Roma in migrant groups is confirmed by the differential proportion, but not a differential source, of European admixture in the Roma groups, which shows a westward cline. In the present study, we found that despite the strong admixture Roma had in their diaspora, the signature of the initial bottleneck and the subsequent endogamy is still present in Roma genomes., This work was supported by the Spanish Ministry of Economy and Competitiveness (Grant No. PID2019-106485GB-I00 and CGL2016-75389-P—MINEICO/FEDER, UE) and “Unidad de Excelencia Maríade Maeztu” (funded by AEI—CEX2018-000792-M) to D.C. and F.C.; and Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya, Grant No. 2017SGR00702). N.F.-P. was supported by a FPU17/03501 fellowship. All samples were collected with informed consent from the participants under the approval of the IRB of the CEIC-Parc Salut Mar 2016/6723/I.

We present a new self-learning computational method searching for footprints of early migration processes determining the genetic compositions of recent human populations. The data being analysed are 26- and 18-dimensional mitochondrial and Y-chromosomal haplogroup distributions representing 50 recent and 34 ancient populations in Eurasia and America. The algorithms search for associations of haplogroups jointly propagating in a significant subset of these populations. Joint propagations of Hgs are detected directly by similar ranking lists of populations derived from Hg frequencies of the 50 Hg distributions. The method provides us the most characteristic associations of mitochondrial and Y-chromosomal haplogroups, and the set of populations where these associations propagate jointly. In addition, the typical ranking lists characterizing these Hg associations show the geographical distribution, the probable place of origin and the paths of their protection. Comparison to ancient data verifies that these recent geographical distributions refer to the most important prehistoric migrations supported by archaeological evidences.

Gyula Ágner was a Royal Hungarian First Lieutenant (1st Lt.) during the World War II and died at 30 years old due to a mine shrapnel injury on 27 April 1944 in Luczky, Ukraine. In October 2014, the Hungarian Ministry of Defence exhumated the remains then transported them to Budapest in Hungary. Classical anthropological methods were used to determine morphological gender, height and age at death; furthermore, metrical and pathological characters were also analysed. Determination of maternal lineage was the only solution to examine the possible relationship of the bone fragments. Gyula Ágner did not have direct descendants, thus the living niece of the deceased (his sister’s daughter) served as the reference person during the investigations. Hypervariable regions of the mtDNA control region (HV1, HV2 and HV3) were amplified by Qiagen® Multiplex PCR Kit in different monoplex reactions. The results of the anthropological and genetical analysis supported the hypothesis that the bone remains belong to Gyula Ágner. Electronic supplementary material The online version of this article (10.1007/s00414-019-02026-z) contains supplementary material, which is available to authorized users.

The Roma population is a European ethnic minority characterized by recent and multiple dispersals and founder effects. After their origin in South Asia around 1,500 years ago, they migrated West. In Europe, they diverged into ethnolinguistically distinct migrant groups that spread across the continent. Previous genetic studies based on genome-wide data and uniparental markers detected Roma founder events and West-Eurasian gene flow. However, to the best of our knowledge, it has not been assessed whether these demographic processes have equally affected both sexes in the population. The present study uses the largest and most comprehensive dataset of complete mitochondrial and Y chromosome Roma sequences to unravel the sex-biased patterns that have shaped their genetic history. The results show that the Roma maternal genetic pool carries a higher lineage diversity from South Asia, as opposed to a single paternal South Asian lineage. Nonetheless, the European gene flow events mainly occurred through the maternal lineages; however, a signal of this gene flow is also traceable in the paternal lineages. We also detect a higher female migration rate among European Roma groups. Altogether, these results suggest that sociocultural factors influenced the emergence of sex-biased genetic patterns at global and local scales in the Roma population through time., Tis work was supported by the Spanish Ministry of Economy and Competitiveness (grant numbers CGL2016- 75389-P (MINEICO/FEDER, UE), PID2019-106485GB-I00 (MINEICO), and “Unidad María de Maeztu” (MDM-2014-0370) to DC and FC; and Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya, grant 2017SGR00702). NF-P was supported by a FPU17/03501 fellowship

István Sándor was a monk and deeply impressed by the spirituality of the Salesian Society. On 24 July 1946 he made his perpetual votes as a Salesian brother. In 1950 the Communist Party banned the operation of religious orders including the Salesian Order. In 1951 the Internal Security Corps was informed about "illegal" activity of István Sándor. He was arrested on 28 July 1952 and sentenced to death by hanging. He was beatified by Pope Francis in 2013. On 12 November 2018 the grave was opened and bones extracted belonging to six individuals. First, forensic anthropological studies were done. For DNA analysis, teeth and right femurs were selected. DNA extraction method was developed by us. Y-chromosomal and autosomal STR profiles were determined from teeth and bones and reference samples. Based on age and height estimates, the bones that could not belong to István Sándor were excluded. The Blessed István Sándor does not have any living relatives. Envelopes and postage stamps were chosen as reference samples from the years 1942 and 1950. We have received full DNA profiles from teeth, but partial profiles from the envelope and the stamp. Genetic investigations performed support the hypothesis that the bone remains, which were exhumed from the mass grave including relics of putative István Sándor, really belong to the Blessed István Sándor who was executed on 08 June 1953 by the Communist Regime.

We have determined the distribution of Y-chromosomal haplotypes and haplogroups in the Yong population, one of the largest and well-known ethnic groups that began migrating southward from China to Thailand centuries ago. Their unique mass migration pattern provided great opportunities for researchers to study the genetic links of the transboundary migration movements among the peoples of China, Myanmar and Thailand. We analysed relevant male-specific markers, such as Y-STRs and Y-SNPs, and the distribution of 23 Y-STRs of 111 Yong individuals and 116 nearby ethnic groups including the Shan, Northern Thai, Lawa, Lua, Skaw, Pwo and Padong groups. We found that the general haplogroup distribution values were similar among different populations; however, the haplogroups O1b-M268 and O2-M112 constituted the vast majority of these values. In contrast with previous maternal lineage studies, the paternal lineage of the Yong did not relate to the Xishuangbanna Dai people, who represent their historically documented ancestors. However, they did display a close genetic affinity to other prehistoric Tai-Kadai speaking groups in China such as the Zhuang and Bouyei. Low degrees of genetic admixture within the populations who belonged to the Austroasiatic and Sino-Tibetan linguistic families were observed in the gene pool of the Yong populations. Resettlement in northern Thailand in the early part of the nineteenth century AD, by way of mass migration trend, was able to preserve the Yong's ancestral genetic background in terms of the way they had previously lived in China and Myanmar. Our study has revealed similar genetic structures among ethnic populations in northern Thailand and southern China, and has identified and emphasized an ancient Tai-Kadai patrilineal ancestry line in the Yong ethnic group.

We applied ancient DNA methods to shed light on the origin of ancient Hungarians and their relation to modern populations. Hungarians moved into the Carpathian Basin from the Eurasian Pontic steppes in the year 895 AD as a confederation of seven tribes, but their further origin remains obscure. Here, we present 17 mtDNA haplotypes and four Y-chromosome haplogroups, which portray the genetic composition of an entire small cemetery of the first generation Hungarians. Using novel algorithms to compare these mitochondrial DNA haplogroups with other ancient and modern Eurasian data, we revealed that a significant portion of the Hungarians probably originated from a long ago consolidated gene pool in Central Asia-South Siberia, which still persists in modern Hungarians. Another genetic layer of the early Hungarians was obtained during their westward migrations by admixing with various populations of European origin, and an important component of these was derived from the Caucasus region. Most of the modern populations, which are genetically closest relatives of ancient Hungarians, today speak non-Indo-European languages. Our results contribute to our understanding of the peopling of Europe by providing ancient DNA data from a still genetically poorly studied period of medieval human migrations.

In this study, we aimed to illustrate the efficiency of correlation analysis of musical and genetic data for certain common ethnic and ethno-musical roots of mankind. The comparison of the results to archaeogenetic data shows that correlations of recent musical and genetic data may reveal past cultural and migration processes resulting in recent connections. The significance tests verified our hypothesis supposing that propagation of oral musical traditions can be related to early human migration processes is well-founded, because the multidimensional point system determined by the inverse rank vectors of correlating Hg-UCT pairs has a very clear structure. We found that associations of Hgs jointly propagating with associations of UCTs (Unified Contour Type) can be identified as significant complex components in both modern and ancient populations, thus, modern populations can be considered as admixtures of these ancient Hg associations. It also seems obvious to conclude that these ancient Hg associations strewed their musical "parent languages" during their migrations, and the correlating UCTs of these musical parent languages may also be basic components of the recent folk music cultures. Thus, we can draw a hypothetical picture of the main characteristics of ancient musical cultures. Modern and prehistoric populations belonging to a common Hg-UCT association are located to very similar geographical areas, consequently, recent folk music cultures are basically determined by prehistoric migrations. Our study could be considered as an initial step in analysis of the correlations of prehistoric and recent musical and genetic characteristics of human evolution history.

After 568 AD the Avars settled in the Carpathian Basin and founded the Avar Qaganate that was an important power in Central Europe until the 9thcentury. Part of the Avar society was probably of Asian origin, however the localisation of their homeland is hampered by the scarcity of historical and archaeological data.Here, we study mitogenome and Y chromosomal STR variability of twenty-six individuals, a number of them representing a well-characterised elite group buried at the centre of the Carpathian Basin more than a century after the Avar conquest.The studied group has maternal and paternal genetic affinities to several ancient and modern East-Central Asian populations. The majority of the mitochondrial DNA variability represents Asian haplogroups (C, D, F, M, R, Y and Z). The Y-STR variability of the analysed elite males belongs only to five lineages, three N-Tat with mostly Asian parallels and two Q haplotypes. The homogeneity of the Y chromosomes reveals paternal kinship as a cohesive force in the organisation of the Avar elite strata on both social and territorial level. Our results indicate that the Avar elite arrived in the Carpathian Basin as a group of families, and remained mostly endogamous for several generations after the conquest.

According to genetic studies, the Hungarian Y-chromosomal gene pool significantly differs from other Uralic-speaking populations. Hungarians possess a significant frequency of haplogroup R1a-Z280 and a low frequency of haplogroup N-Tat, which is common among other Uralic-speaking populations. Based on this evidence, we further worked to define the links between the linguistically related Hungarian, Mansi and Bashkirian Mari populations. Samples were collected from 45 Bashkirian Mari and 36 Southern Mansi males in the Ural region. We analyzed male-specific markers including 23 STRs and 36 SNPs, which reflect past and recent paternal genetic history. We found that the haplogroup distribution of the two population samples showed high genetic similarity to each other except for the N-Tat* and R1a-Z93 haplogroups in the Bashkirian Mari males. On the MDS plots constructed from Fst- and Rst-genetic distances, the Bashkirian Mari and Southern Mansi population groups showed close genetic affinities with the Khanty, Northern Mansi, Mari, and Estonian populations. For phylogenetic studies, networks were constructed for the most frequent haplogroups in both populations together with other Eurasian populations. Both populations shared common haplotypes within haplogroups R1a-Z280 or N-L1034 with Hungarian speakers, suggesting a common paternal genetic footprint that arose in prehistoric or historic times. Overall, the Hungarian, Mansi, and Bashkirian Mari populations have a much more complex genetic history than the traditional linguistic model or history would suggest. Further studies are needed to clarify the common genetic profiles may have been acquired directly or indirectly during the more or less known their history.

Based on genetic studies published, the Hungarian Y-chromosomal gene pool significantly differs from other Uralic-speaking populations. Hungarian males possess a high frequency of haplogroup R1a-Z280 and a low frequency of haplogroup N-Tat, which is uncommon among other Uralic-speaking populations. Previously we published the Northern and Southern Mansi Y-chromosomal data and now further studied to search the links between the linguistically related Hungarian populations. Samples were collected from 36 Southern Mansi males from Konda river basin in the Ural region. We analysed male-specific markers including Y-STRs and Y- SNPs, which would reflect past and recent paternal genetic history. In the case of the Southern Mansi males, the most frequent haplogroups were N1b-P43 (33%), N1c-L1034 (28%) and R1a-Z280 (19%). For phylogenetic studies, networks were constructed for the most frequent haplogroups in the Konda Mansi together with Khanty and Hungarian speaking populations. The Konda Mansi population shared common haplotypes within haplogroups R1a-Z280 or N-M46 with Hungarian speakers, which may suggest that the Hungarians were in contact with the Mansi people during their migration to the Carpathian Basin.

When the DNA profile from a crime-scene matches that of a suspect, the weight of DNA evidence depends on the unbiased estimation of the match probability of the profiles. For this reason, it is required to establish and expand the databases that reflect the actual allele frequencies in the population applied. 21,473 complete DNA profiles from Databank samples were used to establish the allele frequency database to represent the population of Hungarian suspects. We used fifteen STR loci (PowerPlex ESI16) including five, new ESS loci. The aim was to calculate the statistical, forensic efficiency parameters for the Databank samples and compare the newly detected data to the earlier report. The population substructure caused by relatedness may influence the frequency of profiles estimated. As our Databank profiles were considered non-random samples, possible relationships between the suspects can be assumed. Therefore, population inbreeding effect was estimated using the FIS calculation. The overall inbreeding parameter was found to be 0.0106. Furthermore, we tested the impact of the two allele frequency datasets on 101 randomly chosen STR profiles, including full and partial profiles. The 95% confidence interval estimates for the profile frequencies (pM) resulted in a tighter range when we used the new dataset compared to the previously published ones. We found that the FIS had less effect on frequency values in the 21,473 samples than the application of minimum allele frequency. No genetic substructure was detected by STRUCTURE analysis. Due to the low level of inbreeding effect and the high number of samples, the new dataset provides unbiased and precise estimates of LR for statistical interpretation of forensic casework and allows us to use lower allele frequencies.

The goal of this study is to show two new clustering and visualising techniques developed to find the most typical clusters of 18-dimensional Y chromosomal haplogroup frequency distributions of 90 Western Eurasian populations. The first technique called "self-organizing cloud (SOC)" is a vector-based self-learning method derived from the Self Organising Map and non-metric Multidimensional Scaling algorithms. The second technique is a new probabilistic method called the "maximal relation probability" (MRP) algorithm, based on a probability function having its local maximal values just in the condensation centres of the input data. This function is calculated immediately from the distance matrix of the data and can be interpreted as the probability that a given element of the database has a real genetic relation with at least one of the remaining elements. We tested these two new methods by comparing their results to both each other and the k-medoids algorithm. By means of these new algorithms, we determined 10 clusters of populations based on the similarity of haplogroup composition. The results obtained represented a genetically, geographically and historically well-interpretable picture of 10 genetic clusters of populations mirroring the early spread of populations from the Fertile Crescent to the Caucasus, Central Asia, Arabia and Southeast Europe. The results show that a parallel clustering of populations using SOC and MRP methods can be an efficient tool for studying the demographic history of populations sharing common genetic footprints.

Genetic studies noted that the Hungarian Y-chromosomal gene pool significantly differs from other Uralic-speaking populations. Hungarians show very limited or no presence of haplogroup N-Tat, which is frequent among other Uralic-speaking populations. We proposed that some genetic links need to be observed between the linguistically related Hungarian and Mansi populations.This is the first attempt to divide haplogroup N-Tat into subhaplogroups by testing new downstream SNP markers L708 and L1034. Sixty Northern Mansi samples were collected in Western Siberia and genotyped for Y-chromosomal haplotypes and haplogroups. We found 14 Mansi and 92 N-Tat samples from 7 populations. Comparative results showed that all N-Tat samples carried the N-L708 mutation. Some Hungarian, Sekler, and Uzbek samples were L1034 SNP positive, while all Mongolians, Buryats, Khanty, Finnish, and Roma samples yielded a negative result for this marker. Based on the above, L1034 marker seems to be a subgroup of N-Tat, which is typical for Mansi and Hungarian-speaking ethnic groups so far. Based on our time to most recent common ancestor data, the L1034 marker arose 2,500 years before present. The overall frequency of the L1034 is very low among the analyzed populations, thus it does not necessarily mean that proto-Hungarians and Mansi descend from common ancestors. It does provide, however, a limited genetic link supporting language contact. Both Hungarians and Mansi have much more complex genetic population history than the traditional tree-based linguistic model would suggest.

During personal identification we can analyse the phenotypic or genotypic complexions of a human. The ancient histories of scientific activities in this field were related to the descriptive or measurable features, called phenotype analyses. In the last decades of the 20th century, during the era of human genetics, numerous polymorphic genetic markers were discovered investigating the human nuclear or mitochondrial DNA (deoxyribonucleic acid). The results of the Human Genome Project revolutionized the applications and opened an era of the investigations for externally visible characteristics (EVCs), the so called DNA based phenotyping (age, hair–, and eye– colour investigations) using informative molecular markers. The polymorphic characteristics of the human eye are well known. This partly originates from the vessel network and the layer order of the retina or the unique construction of the initial section of the optic nerve at the eye-ground. The iris’ individuality resides in its complex textural construction. The iris’ colour and partly its patterns (variations of the Fuchs’ crypts, nevi dots, Wolfflin nodules and contraction furrows) are genetically determined. All of these previously mentioned iris polymorphisms led to the development of a number of automatic phenotypic or genotypic biometric personal identification practical applications. The aim of this study is to briefly summarize the background of this topic condensing those results which are available in this field, and to present our efforts related to a novel approach in the field of iris colour prediction.

The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa. Electronic supplementary material The online version of this article (doi:10.1007/s00438-017-1363-8) contains supplementary material, which is available to authorized users.

We have determined the distribution of Y chromosomal haplotypes and haplogroups in population samples from one of the most important areas in north-eastern Hungary from many villages in the Bodrogkoz. The Bodrogkoz region was chosen due to its isolated nature, because this area was a moorland encircled by the Tisza, Bodrog, and Latorca Rivers and inhabitants of this part of Hungary escaped from both Tatar and Ottoman invasions, which decimated the post-Hungarian Conquest populations in many parts of the country. Furthermore, in the first half of the tenth century, this region served as the Palatial Centre and burial grounds of the Hungarian tribes. It has thus been assumed that the present population in this area is likely to be more similar to the population that lived in the Conquest period. We analysed male-specific markers, 23 Y-STRs and more than 30 Y-SNPs, that reflect the past and recent genetic history. We found that the general haplogroup distribution of the samples showed high genetic similarity to non-Bodrogkoz Hungarians and neighbouring populations, despite its sheltered location and historical record. We were able to classify the Y-chromosomal haplogroups into four large groups based on STR mutation events: pre-Roman/Roman ancient lineage, Finno-Ugric speakers arriving into the Carpathian Basin, Migration period admixture, and post-Hungarian Conquest admixture. It is clear that a significantly larger database with deep haplogroup resolution, including ancient DNA data, is required to strengthen this research.

Since prehistoric times, Mon-Khmer speaking people have been recognized as indigenous ethnic groups living in northern Thailand. After the period of Tai colonization in the thirteenth century CE, the Mon-Khmer inhabitants were fragmented; some were expelled to rural areas while some were integrated into the mainstream of Tai society. Autosomal STR variations revealed that the present-day Mon-Khmer people could be genetically divided into two clusters. This finding appears to be consistent with the level of historical contact with the Tai majority ethnic groups. The cluster consisting of the Khamu, Lua, Paluang and Htin people, indicate that they have lived in remote areas and have had little historical contact with the Tai people. In this way, they appeared to have maintained aspects of their Mon-Khmer ancestral genetic bloodline but have genetically diverged from the Tai people. The cluster comprised of the Mon and Lawa people had an exclusively close relationship with the Tai people during the establishment of the prosperous Lan Na Kingdom. A fraction of the Tai genetic component investigated among the Mon people and some Lawa populations reflected the evidence of genetic admixture. However, some Lawa people, who have lived in the mountainous area of Mae Hong Son Province have exhibited a unique gene pool, which might have been shaped by the founder effect that occurred during their historical fragmentation. The rise of the genetic assimilation of the hill-tribe Karen people into the Mon-Khmer and the Tai gene pools indicated that different languages, cultures, and geographical distances have lost their power as barriers of inter-ethnic marriages in the present day.

Haplogroup R1a1-M198 is a major clade of Y chromosomal haplogroups which is distributed all across Eurasia. To this date, many efforts have been made to identify large SNP-based subgroups and migra- tion patterns of this haplogroup. The origin and spread of R1a1 chromosomes in Eurasia has, however, remained unknown due to the lack of downstream SNPs within the R1a1 haplogroup. Since the discovery of R1a1-M458, this is the first scientific attempt to divide haplogroup R1a1-M198 into multiple SNP-based sub-haplogroups. We have genotyped 217 R1a1-M198 samples from seven different population groups at M458, as well as the Z280 and Z93 SNPs recently identified from the ''1000 Genomes Project''. The two additional binary markers present an effective tool because now more than 98% of the samples analyzed assign to one of the three sub-hap- logroups. R1a1-M458 and R1a1-Z280 were typical for the Hungarian population groups, whereas R1a1-Z93 was typical for Malaysian Indians and the Hungarian Roma. Inner and Central Asia is an overlap zone for the R1a1- Z280 and R1a1-Z93 lineages. This pattern implies that an early differentiation zone of R1a1-M198 conceivably occurred somewhere within the Eurasian Steppes or the Middle East and Caucasus region as they lie between South Asia and Eastern Europe. The detection of the Z93 paternal genetic imprint in the Hungarian Roma gene pool is consistent with South Asian ancestry and amends the view that H1a-M82 is their only discernible paternal lineage of Indian heritage. Am J Phys Anthro- pol 000:000-000, 2012. V V C 2012 Wiley Periodicals, Inc.

Computer-aided comparison of folk music from different nations is one of the newest research areas. We were intrigued to have identified some important similarities between phylogenetic studies and modern folk music. First of all, both of them use similar concepts and representation tools such as multidimensional scaling for modelling relationship between populations. This gave us the idea to investigate whether these connections are merely accidental or if they mirror population migrations from the past. We raised the question; does the complex structure of musical connections display a clear picture and can this system be interpreted by the genetic analysis? This study is the first to systematically investigate the incidental genetic background of the folk music context between different populations. Paternal (42 populations) and maternal lineages (56 populations) were compared based on Fst genetic distances of the Y chromosomal and mtDNA haplogroup frequencies. To test this hypothesis, the corresponding musical cultures were also compared using an automatic overlap analysis of parallel melody styles for 31 Eurasian nations. We found that close musical relations of populations indicate close genetic distances (

According to written sources, Roma (Romanies, Gypsies) arrived in the Balkans around 1,000 years ago from India and have subsequently spread through several parts of Europe. Genetic data, particularly from the Y chromosome, have supported this model, and can potentially refine it. We now provide an analysis of Y-chromosomal markers from five Roma and two non-Roma populations (N 5 787) in order to investigate the genetic relatedness of the Roma popula- tion groups to one another, and to gain further under- standing of their likely Indian origins, the genetic contri- bution of non-Roma males to the Roma populations, and the early history of their splits and migrations in Europe. The two main sources of the Roma paternal gene pool were identified as South Asian and European. The reduced diversity and expansion of H1a-M82 lineages in all Roma groups imply shared descent from a single paternal ancestor in the Indian subcontinent. The Roma paternal gene pool also contains a specific subset of E1b1b1a-M78 and J2a2-M67 lineages, implying admixture during early settlement in the Balkans and the subsequent influx into the Carpathian Basin. Additional admixture, evident in the low and moderate frequencies of typical European haplogroups I1-M253, I2a-P37.2, I2b-M223, R1b1-P25, and R1a1- M198, has occurred in a more population-specific manner. Am J Phys Anthropol 000:000-000, 2011. V C 2011 Wiley-Liss, Inc.

Haplotype frequencies for 11 Y-STR markers (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438 and DYS439) in a Romani population (n=63) from Slovakia, Jats of Haryana (n=84) and Jat Sikhs (n=80) from India were determined. The Slovakian Romani, the Haryana and Sikh populations were endogamous based on their unique haplotype ratio and haplotype diversity values, although the Sikh population appeared to be more diverse. AMOVA revealed non-significant differences between the Romanies and significant differences with non-Romani populations. The Macedonian Romani population differed from all Romani populations examined. Frequent haplotypes observed in Romani populations were sporadic in northwest Indian populations. Thirteen out of 316 populations worldwide were found to share the six most frequent haplotypes of the Slovakian Romanies when the screening conditions were narrowed based on the population size to be over 40, the occurrence of the haplotypes was more than one and the sum frequencies of the most frequent haplotypes was at least 0.02. The most common haplotypes were also observed in other Romani groups. When searching with two Indian (Malbar and Malaysian Indian) most frequent haplotypes under the same conditions matches could be detected in all Romani populations except for the Macedonian Romanies. The search with the Jat Sikhs and Jats of Haryana most frequent haplotypes resulted no matches in Romani populations.

Testing of thirty autosomal single nucleotide polymorphisms were performed in 218 independent Hungarian male and female samples. We applied this system to 24 paternity testing cases including 14 inclusions and 10 exclusions.

Background Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features. The classical 45,X karyotype accounts approximately for half of all patients, the remainder exhibit mosaicism or structural abnormalities of the X chromosome. However, complex intra-X chromosomal rearrangements involving more than three breakpoints are extremely rare. Results We present a unique case of a novel complex X chromosome rearrangement in a young female patient presenting successively a wide range of autoimmune diseases including insulin dependent diabetes mellitus, Hashimoto’s thyroiditis, celiac disease, anaemia perniciosa, possible inner ear disease and severe hair loss. For the genetic evaluation, conventional cytogenetic analysis and FISH with different X specific probes were initially performed. The complexity of these results and the variety of autoimmune problems of the patient prompted us to identify the exact composition and breakpoints of the rearranged X as well as methylation status of the X chromosomes. The high resolution array-CGH (assembly GRCh37/hg19) detected single copy for the whole chromosome X short arm. Two different sized segments of Xq arm were present in three copies: one large size of 80,3 Mb from Xq11.1 to Xq27.3 region and another smaller (11,1 Mb) from Xq27.3 to Xq28 region. An 1,6 Mb Xq27.3 region of the long arm was present in two copies. Southern blot analysis identified a skewed X inactivation with ≈ 70:30 % ratios of methylated/unmethylated fragments. The G-band and FISH patterns of the rearranged X suggested the aspect of a restructured i(Xq) chromosome which was shattered and fortuitously repaired. The X-STR genotype analysis of the family detected that the patient inherited intact maternal X chromosome and a rearranged paternal X chromosome. The multiple Xq breakages and fusions as well as inverted duplication would have been expected to cause a severe Turner phenotype. However, the patient lacks many of the classic somatic features of Turner syndrome, instead she presented multiorgan autoimmune diseases. Conclusions The clinical data of the presented patient suggest that fragmentation of the i(Xq) chromosome elevates the risk of autoimmune diseases.

In this study, we analyse 27-dimensional mtDNA haplogroup distributions of 174 Eurasian, North-African and American populations, including numerous ancient data as well. The main contribution of this work was the description of the haplogroup distribution of recent and ancient populations as compounds of certain hypothetic ancient core populations immediately or indirectly determining the migration processes in Eurasia for a long time. To identify these core populations, we developed a new iterative algorithm determining clusters of the 27 mtDNA haplogroups studied having strong rank correlation among each other within a definite subset of the populations. Based on this study, the current Eurasian populations can be considered as compounds of three early core populations regarding to maternal lineages. We wanted to show that a simultaneous analysis of ancient and recent data using a new iterative rank correlation algorithm and the weighted SOC learning technique may reveal the most important and deterministic migration processes in the past. This technique allowed us to determine geographically, historically and linguistically well-interpretable clusters of our dataset having a very specific, hardly classifiable structure. The method was validated using a 2-dimensional stepping stone model.

Historically, the Carpathian Basin was the final destination for many nomadic peoples who migrated westward from Inner and Central Asia towards Europe. Proto-Hungarians (Steppe Magyars) were among those who came from the East, the Eurasian Steppe in the early middle ages. In order to detect the paternal genetic contribution from nomadic Steppe tribes, we tested 966 samples from Central Asian (Uzbekistan, Kazakhstan), Inner Asian (Mongolians and Buryats in Mongolia) and Hungarian-speaking European (Hungarian, Sekler and Csango) populations. We constructed median-joining networks of certain haplogroups in Hungarian-speaking European, and Altaic-speaking Central and Inner Asian populations. We estimated that the possible paternal genetic contribution from the above described populations among contemporary Hungarian speaking populations ranged between 5% and 7.4%. It is lowest among Hungarians from Hungary (5.1%), while higher among Hungarian-speaking groups in Romania, notably Sekler (7.4%) and Csango (6.3%). However, these results represent only an upper limit. Actual Central/Inner Asian admixture might be somewhat lower as some of the related lineages may have come from a common third source. The main haplogroups responsible for the Central/Inner Asian admixture among Hungarians are J2*-M172 (xM47, M67, M12), J2-L24, R1a-Z93; Q-M242 and E-M78. Earlier studies showed very limited Uralic genetic influence among Hungarians, and based on the present study, Altaic/Turkic genetic contribution is also not significant, although significantly higher than the Uralic one. The conclusion of this study is that present-day Hungarian speakers are genetically very similar to neighbouring populations, isolated Hungarian speaking groups having relatively higher presence of Central and Inner Asian genetic elements. At the same time, the reliable historical and genetic conclusions require an extension of the study to a significantly larger database with deep haplogroup resolution, including ancient DNA data.

Testing of 49 Y-SNP loci with TaqMan assays were completed in 119 independent Hungarian, 61 Hungarian Romani and 29 Tiszavasvari Hungarian Romani male samples. Haplogroup diversity values were calculated and the populations were compared to each other with G-test. The two Romani populations were not significantly different from each other, when their haplogroup frequencies were compared ( p =0.01). The Hungarian population was significantly different from both Romani populations. Genetic distances of the above populations to South Indian, Northwest Indian (Punjab) and East Asian populations were calculated based on haplogroup frequencies with AMOVA implemented in Arlequin2.0. The major Hungarian Y chromosomal haplogroups were R1a1-M198, R1b-P25 and I1b-P37. In the Hungarian Romani population the most frequent haplogroups were H1-M82, R1a1-M198 and J2f-M67, while in the Tiszavasvari Hungarian Romani population also the H1-M82 haplogroup was the most frequent with the frequency as high as 60%. Preliminary haplogroup data of the Malaysian Indian population indicate that the Romanies might come from South India, since one of their major haplogroups was H1-M82 with the frequency of 19.7%, and based on haplogroup frequencies the genetic distances between the Malaysian Indian and the Romani populations were similar to that of the Hungarian population, regardless of the large geographic distance.

A relatively rapid and economic way of identifying and assigning nematodes to taxons, which had already been determined either by comparative sequence analysis of nuclear rDNA internal transcribed spacer (ITS) region or by other methods of molecular or conventional taxonomy, is provided. Molecular identification of entomopathogenic nematodes (EPN) can be upgraded by basing it on PhastSystem polyacrylamide gel electrophoresis (PAGE) analysis of restriction fragment length polymorphism (RFLP) patterns of polymerase chain reaction (PCR)-amplified DNA derived from single nematodes of Steinernema or Heterorhabditis spp. Although analysis from single worms has previously been made on agarose gel, the resolution on PhastSystem PAGE gel is much higher. The DNA sequences selected for analysis were those constituting the internal transcribed spacer region between the 18S and 26S rDNA genes within the rRNA operon. RFLP analysis was carried out by gel electrophoresis on the PhastSystem (Pharmacia) as detailed elsewhere (Triga et al., Electrophoresis 1999, 20, 1272—1277). The downscaling from conventional agarose to PhastSystem gels resulted in pattern of DNA fragments differing from those obtained with agarose gel electrophoresis under conventional conditions by increasing the number of detected fragments. The approach supported previous species identifications and was able to identify several unclassified isolates, such as those from Hungary and Ireland, and provides a method for identification of previously unclassified strains. We confirmed that Heterorhabditis “Irish Type”, represented by two strains of different geographical origin, comprise a species different from H. megidis. We also confirmed that strain IS5 belongs to the species H. indicus rather than to H. bacteriophora, as had been suggested previously.

The DNA sequences constituting the internal transcribed spacer region, located between 18S and 26S rDNA genes within the rRNA operon, derived from single nematodes of two genera (Steinernema and Heterorhabditis) were amplified by polymerase chain reaction (PCR) and subjected to digestion by four restriction enzymes. The digests were analyzed by restriction fragment length polymorphism (RFLP) gel electrophoresis on the PhastSystem, using 7.5%T, 5%C(Bis) polyacrylamide. The downscaling from conventional agarose to PhastSystem gels permitted the analysis to be done on individual nematodes, rather than on mixed samples with average properties. The analysis time was reduced so as to allow for the electrophoretic separation on 200 samples/workday. The resulting patterns of DNA fragments differed from those obtained by agarose gel electrophoresis under conventional conditions by an increased number of detected fragments. The PhastSystem gel analysis provides the basis for taxonomical revisions (Pamjav et al., Electrophoresis 1999, 20, 1264—1271.)

According to the opinion of a plaintiff (Mrs. B) and a co-plaintiff (Mrs. A), two samples had been exchanged during cytogenetic investigation of foetal chorionic villi (CV), because the child of Mrs. A was born with Down syndrome in spite of the negative CV result (46, XY). The CV investigation of Mrs. B had given a positive result (47, XY, +21), so the pregnancy was terminated, but histological sections of her abortus showed no pathological changes. DNA profiles were successfully obtained from the participants and both of the slides. Two complicating factors were observed during the investigation. Between mother (Mrs. A) and the Down syndrome child, a one-step germ line mutation was found together with a three-allele D3S1358 pattern in the same child's profile. The genetic investigation and its statistical interpretation strongly support the hypothesis that the putative exchange of samples did not occur. D 2003 Elsevier B.V. All rights reserved.

Mendizabal, Isabel et al., The Romani, the largest European minority group with approximately 11 million people [1], constitute a mosaic of languages, religions, and lifestyles while sharing a distinct social heritage. Linguistic [2] and genetic [3-8] studies have located the Romani origins in the Indian subcontinent. However, a genome-wide perspective on Romani origins and population substructure, as well as a detailed reconstruction of their demographic history, has yet to be provided. Our analyses based on genome-wide data from 13 Romani groups collected across Europe suggest that the Romani diaspora constitutes a single initial founder population that originated in north/northwestern India ∿1.5 thousand years ago (kya). Our results further indicate that after a rapid migration with moderate gene flow from the Near or Middle East, the European spread of the Romani people was via the Balkans starting ∿0.9 kya. The strong population substructure and high levels of homozygosity we found in the European Romani are in line with genetic isolation as well as differential gene flow in time and space with non-Romani Europeans. Overall, our genome-wide study sheds new light on the origins and demographic history of European Romani. © 2012 Elsevier Ltd., I.M. was supported by a PhD grant by the Basque Government (Hezkuntza, Unibertsitate eta Ikerketa Saila, Eusko Jaurlaritza, BFI107.4). O.L., A.W., and M.K. were supported by the Erasmus MC University Medical Center Rotterdam. U.M.M. was supported by a PhD grant by Universitat Pompeu Fabra. M.G.N. was supported by a Vici grant of the Netherlands Organization of Scientific Research. L.G. was supported by an Invited Professor grant from CAPES/Brazil. A.M. was supported by the Estonian Government grant SF0180142s08. This study was supported in parts by Spanish Government MCINN grant CGL2010-14944/BOS to D.C., Czech Republic Ministry of Health grants CZ.2.16/3.1.00/24022 and 00064203 to M.M., Republic of Serbia Ministry of Education and Science grant ON173008 to D.R., Belgium University of Antwerp grant IWS BOFUA 2008/23064 to A.J., and Portuguese Foundation for Science and Technology (FCT) project grant PTDC/ANT/70413/2006 to L.G. IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Education and Science and is partially supported by the FCT.

Romanies constitute the largest minority group belonging to different subgroups in Hungary. Vlax Romanies are one of these Romani subgroups. The Gypsies came to Hungary from the Balkans in two large migrations. The Carpathian Romanies arrived in the 15th century and the Vlax Romanies came in the 19th century. The Carpathian Gypsies speak Hungarian and the Vlax Romanies speak Hungarian and Romani languages. Only a limited number of genetic studies of Y-chromosomal haplotypes/haplogroups have been done before, moreover most studies did not contain information regarding the investigated Roma populations which subgroups belong to. In the present study, we analyzed a wide set of Y-chromosomal markers to do comparable studies of the Vlax Roma in eastern Hungarian regions. The results can be compared in the context of previously published data on other Romani groups, Indian and Hungarian reference populations. Haplogroups H1a-M82 and J2a2-M67 were most common in the investigated population groups. A median-joining network of haplogroup H1a-M82 has demonstrated the sharing of identical Indian specific Y-chromosomal lineages between all Romani populations including Malaysian Indians as well as the Vlax Romanies. This common lineage of haplogroup H1a-M82 represents a common descent from a single ancestor provides a strong genetic link to the ancestral geographical origin of the proto-Gypsies. The detected haplogroups in the Vlax Romani population groups can be classified into two different Y-chromosomal lineages based on their putative origin. These lineages include ancestral Indian (H1a-M82), present-day Eurasian (J2a2-M67, J2*-M172, E1b1b1a-M78, I1-M253, R1a1-M198 and R1b1-P25) Y-chromosome lineages. Presence of these lineages in the paternal gene pool of the Roma people is illustrative of the Gypsy migration route from India through the Balkan to the Carpathian Basin.