Frequencies of genetic polymorphisms of the three most frequent HIV-1 resistance-conferring alleles playing an important role in HIV-1 pathogenesis were analysed in Vlach Gypsy populations living in Hungary, as the largest minority. Mutations in the encoding genes, such as CCR5-∆32, CCR2-64I and SDF1-3’A are shown to result in protective effects against HIV-1 infection and disease progression. 560 samples collected from Vlach Gypsy individuals living in 6 North-East Hungarian settlements were genotyped by PCR-RFLP method. Overall allele frequencies of CCR5-∆32, CCR2-64I and SDF1-3’A were found as 0.122, 0.186 and 0.115 respectively. All the observed genotype frequencies were in accordance with Hardy-Weinberg equilibrium . In regions, however, Vlach Gypsies live in majority and in ethnically homogenous communities, a higher CCR5-∆32 mutations were found, with allele frequencies of 0.148 and 0.140 respectively, which are remarkably higher than those in general Hungarian people, and ten times higher than in regions of North-Western India from where present day Hungarian Gypsies originated in the Middle Ages. In the background of this higher CCR5-∆32 allele frequency in the population analysed in our study a genetic founder effect could be assumed. Allele frequency of CCR2-64I was found to be among the highest in Europe. SDF1-3’A allele frequency in Vlach Gypsies was significantly lower than in ethnic Hungarians. 63% of the total 560 individuals tested carried at least one of the mutations studied. These results could partially explain the low incidence of HIV/AIDS among Vlach Gypsies in Hungary.

The genetic variability, haplotype profile and ethnic differences of MDR1 polymorphisms in healthy Roma and Hungarian populations were analyzed and the results were compared with those of other populations available from the literature. Healthy subjects (465 Roma and 503 Hungarian) were genotyped for C1236T, G2677T/A and C3435T variants of MDR1 by PCR-RFLP assay. Differences were found between the Roma and Hungarian populations in the frequencies of MDR1 1236 CC (20.7 vs. 33.2%) and TT genotypes (30.8 vs. 21.9%), in T allele frequency (0.551 vs. 0.443) (p < 0.002), and in 3435T allele frequency (0.482 vs. 0.527, p < 0.04). Furthermore, the frequency of CGC, CGT and CTT haplotypes was significantly higher in the Hungarian population than in Roma (41.4 vs. 35.3%, 9.04 vs. 6.02% and 2.88 vs. 1.08%, respectively; p < 0.009), whereas the frequency of TGC and TTC haplotypes was higher in the Roma population than in the Hungarian (7.31 vs. 1.68% and 6.67 vs. 2.08%, respectively; p < 0.001). The prevalence of MDR1 polymorphisms in the Hungarian population is similar to that of other European populations; however, some differences were observed in the haplotype structures. In contrast, the Roma population differs from Hungarians, from Caucasians and from populations from India in the incidence of MDR1 common variants and haplotypes.

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.

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 = 787) in order to investigate the genetic relatedness of the Roma population groups to one another, and to gain further understanding of their likely Indian origins, the genetic contribution 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.

Magyarorszagi Kaukazusi magyar (egeszseges kontroll) olah roma (egeszseges) es Kaukazusi Alzheimer-koros (AK) szemelyektől vermintakat gyűjtottunk. Az irodalomban elsőkent szamoltunk be kutatasainkban a mikrotubulus asszocialt tau protein roma populacioban gyakrabban előfordulo strukturalis variaciojarol. A H1 haplotipus a Kaukazusi AK betegek eseteben nem mutatott gyakorisagi elterest a kontroll csoporthoz kepest. Az irodalomban elsőkent vizsgaltuk roma populaciok dopamin anyagcserevel kapcsolatos polimorfizmusait. (dopamin transzporter, dopamin-3 receptor) A dopamin transzporter 11es alleljanak gyakorisagat emelkedettnek talaltuk hazai olah roma populaciokban a Kaukazusi kontroll csoporthoz viszonyitva. A ciklooxigenaz-2, a foszfolipaz-A2 es az interferon-gamma SNP-k hazai Kaukazusi populaciokban előfordulo gyakorisagat jellemeztuk elsőkent az irodalomban. Ezen kivul a Kalcium homeosztazis modulator-1 protein es a szigma-1 receptor genek SNP-inek előfordulasat is elemeztuk az AK riziko szempontjabol, de eltereseket nem talaltunk. A depresszioval kapcsolatos rizikogenek kozul az 5HT/2A receptor es a szerotonin transzporter genek szerepet vizsgaltuk az AK vonatkozasaban es az irodalomban elsőkent szamolunk be az 5HTR2A C/T+T/T genotipusok gyakoribb hazai előfordulasarol. A koleszterin anyagcsere AK-val kapcsolatos rizikogenjei kozul elsőkent kozoltuk a Seladin1 gen T/T genotipusanak szexualisan dimorf jellegű riziko szerepet demens betegeinknel. | Blood samples were collected from healthy Caucasian control, healthy olah roma, and Caucasian Alzheimer’s dementia (AD) probands. The structural variants of tau gene are considered as susceptibility factors to taupathies. The roma population associated structural variation of microtubule associated tau protein gene was first described by our group. On the other hand, the H1 haplotype was not more prevalent in the Caucasian AD population as compared with the controls. The dopamine metabolism related gene polymorphisms (dopamine transporter, dopamine 3 receptor) were also examined by our group in the case of the roma population. According to our results, the dopamine transporter 11 allele was over-represented in the roma population as compared with the Caucasian controls. The RFLPs of cyclooxygenase-2, phospholipase-A2 and interferon-gamma genes were described for the first time in the literature in the Hungarian Caucasian AD and control populations. The SNPs of the Calcium modulator-1 protein and sigma-1 receptor genes as potential risk factors for AD were also evaluated, but no significant associations were found. The increased prevalence of 5HTR2A C/T and T/T genotypes was found to be an apoE E4 allele independent risk factor of AD in the Hungarian AD group. We were the first who described the sexual dymorphic over-representation of Seladin-1 T/T genotype in the Hungarian AD population.

Testing of 49 Y-SNP loci with TaqMan assays were completed in 119 independent Hungarian, 61 Hungarian Romani and 29 Tiszavasvári 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 Tiszavasvári 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.

1. Biotinidase defektusos ujszulottek szűrese a betegek molekularis genetikai analysise magyar kaukazoid es roma populatioban.Eredmenyek:Hazai vizsgalatok: 58 csaladban vizsgaltuk a specifikus biotinidaz enzymaktivitast a kiszűrt enzymhianyos csaladokban, Wolf es mtsai. (1983) modszerevel, fel Magyarorszagi ujszulottpopulacioban, kiemelve a hazai roma populatio erintettseget. Molekularis genetikai mutacios vizsgalatok polymerase lancreakcio/SSCP analysissel tortentek. A betegek 60 %-a roma populaciohoz tartozik. Ot csaladban fordult elő az 1595C>T (T532M) mutacio, amely founder (alapito)mutacionak felel meg, utobbi eredeti megallapitas, altalanositas roma populatiora. Tovabbi 1 biotinidaz defektusos betegnel a 15 95C-T /Q456H es egy masiknal kettős heterozygotasag volt kimutathato, igy 511G>A es 1330G>C ( A171CT/D444H). Egy masik beteg reszleges enzymhiannyal heterozygota genotipusu volt 1595C>T (T532M) es heterozygota 13300 GyC (D444H) pontmutatiora. Egy beteg biotinidaz enzymaktivitasa nulla volt, aki homozygota mutansnak bizonyult 1568CyT (T532M)-re. 2. A galaktokinaz (GALK1) gen P28T mutacio incidenciaja galactokinase hianyos roma betegekben Europaban.Osszesen 803 nem rokon roma erintett beteget vizsgaltunk Bulgariaban, Magyarorszagon es Spanyolorszagban, az ossz. genhordozo rata 1:47-nek adodott. Munkacsoportunk altal detektalt: P28T mutacio founder mutacionak minősithető a GALK1 genben. | 1.Neonatal screening for biotinidase deficiency in Hungary was made in 58 families with Wolf et. al. (1983) method. PCR/SSCP analysis was carried out. The patient?s 60% belong to Roma population. As founder mutation 1595C>T (T532M) mutation has been proven. 2.Mutation analysis of galaktokinase (GALK 1) gene in Rom. population. The P28T mutation in GALK 1 gene accounts for galaktokinase deficiency as founder mutation. 3.Population molecular genetic investgation for cystic fibrosis in C. and R. population. (Tiszalok, Tiszadada, Tiszananas). The delta F 508 mutation occurred in 43%, with 0,144 homosygous index (HI), against of 50% with 0,127 HI in C. 4.Population genetic analysis of Y chromosome in R. population. Y STR systems were detected by gen RES DYS plex-1 and plex 2 cits,with Y markers DYS 19, DYS 389?in 201 C. and 196 R. The 2 Hungarian R. pop. were different. 5.Relevant pointmutations and polymorphysms for susceptibility for coronaria sclerosis in R. population, with light sicler (5-10 MTHFR, C677T polymorphism, ACE insertion and deletion polymorphism ID), plasminogen gene activator inhibitor (PAI 4/5) polymorphysm. Results: PAI4 allele was significantly more frekvent, while PAI5 and MTHFR C667T mutation were decreased. 6.Facioscapulohumeral dystrophy FSHD(Spinal Muscular Atrophy) and congenital myasthenia syndrome were analysed in Rom. population with PCR/RFLP. The 1267 delG (guanine deletion) as founder mutation of Rom. minority was proven.

The 125th ENMC International Workshop was a follow-up on the previous ENMC Workshop on Neuromuscular Disorders in Gypsies, which took place in March 2001. The unique feature of both meetings was their focus on a specific population, rather than on a specific disease, and on the contribution of this population to our general understanding of neuromuscular pathology. In the 7 years that followed the first reports on neuromuscular disorders (NMDs) in Gypsies [1,2], growing interest has resulted in over 40 publications, describing novel disorders, founder mutations, and genotype–phenotype correlations.

Magyars imposed their language on Hungarians but seem not to have affected their genetic structure. To better investigate this point, we analysed some mtDNA and Y chromosome polymorphisms in a sample of the Hungarian Palóc who, for historical reasons, could have retained genetic traces of Magyars more than other groups. In addition, we examined a mixed sample from Budapest. About 100 individuals were tested for the markers defining all the European and Asian mtDNA haplogroups and about 50 individuals for some Y chromosome markers, namely the 12f2 and 49a,f/TaqI RFLPs, the YAP insertion, the microsatellites YCAIIa, YCAIIb, DYS19 and the Asian 50f2/C deletion. In the mtDNA analysis only two subjects belonged to the Asian B and M haplogroups. The Y chromosome analyses showed: that the Palóc differed from the Budapest sample by the absence of YAP+ allele and by the DYS19 allele distribution; that the proto-European 49a,f Ht 15 and the neolithic 12f2–8Kb were rather uncommon in both groups; that there is a high prevalence of the 49a,f Ht 11 and the YCAII a5–b1; and that the Asian 50f2/C deletion is absent. These results suggest that the influence of Magyars on the Hungarian gene pool has been very low through both females and males and the Hungarian language could be an example of cultural dominance. Alternative explanations are discussed. An expansion centred on YAP−; 49a,f Ht 11 is revealed by the median network based on compound haplotypes. 49a,f Ht 11 could represent either a paleolithic marker of eastern Europe which underwent expansion after the last glacial period, or a marker of the more recent spread of the Yamnaia culture from southern Ukraine.

Y chromosomal polymorphisms were studied in 502 males from 16 Eurasian ethnic groups including the Finns, Saami (Inari Lake area and Skolt Saami), Karelians, Mari, Mokshas, Erzas, Hungarians (Budapest area and Csángós), Khanty, Mansi, Yakuts, Koryaks, Nivkhs, Mongolians, and Latvians. The samples were analysed for polymorphisms in the Y chromosome specific Alu insertion (YAP) and six microsatellites (DYS19, DYS389-I and II, DYS390, DYS392, DYS393). The populations were also screened for the recently described Tat polymorphism. The incidence of YAP+ type was highest in the Csángós and in other Hungarians (37.5% and 17.5%, respectively). In the Karelians and the Latvians it was present at approximately the same level as commonly found in other European populations, whilst absent in our further samples of Eurasian populations, including the Finns and the Saami. Aside from the Hungarians, the C allele of the Tat polymorphism was common in all the Finno-Ugric speaking populations (from 8.2% to 63.2%), with highest incidence in the Ob-Ugrian Khanty. The C allele was also found in the Latvians (29.4%). The haplotypes found associated with the Tat C allele showed consistently lower density than those associated with the T allele, indicating that the T allele is the original form. The computation of the age of the Tat C suggested that the mutation might be a relatively recent event giving a maximum likelihood estimate of 4440 years (95% confidence interval about 3140–6200 years). The distribution patterns of the 222 haplotypes found varied considerably among the populations. In the Finns a majority of the haplotypes could be assigned to two distinct groups, one of which harboured the C allele of the Tat polymorphism, indicating dichotomous primary source of genetic variation among Finnish males. The presence of a bottleneck or founding effect in the male lineages of some of the populations, namely in the Finns and the Saami, would appear to be one likely interpretation for these findings.

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. # 2008 Elsevier Ireland Ltd. All rights reserved.