The successful use of familial searching in six Hungarian high profile cases by applying a new module in Familias 3.

Commonly DNA profiles obtained from biological samples found at crime scenes or of unknown bodies are searched against a large national or local database of reference and crime scene DNA profiles. The aim is to find a direct match, i.e.

Population genetic study in two Transylvanian populations using forensically informative autosomal and Y-chromosomal STR markers.

Our study provides population genetic data on two population samples collected in a Hungarian speaking region of Transylvania, Romania. Allele frequency and profile databases were generated on 17 autosomal STR loci (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, VWA, FGA, TH01, TPOX, CSF1PO, Penta E and Penta D) as well as at the 12 European Y-STR extended haplotype loci (DYS19, DYS389-I/II, DYS390, DYS391, DYS392, DYS393, DYS385 loci, DYS437, DYS438 and DYS439). Data were compared to a Central Hungarian (Budapest region) population sample [B.

Analysis of the population heterogeneity in Hungary using fifteen forensically informative STR markers.

Previous studies have shown that population analyses in Hungary can be of great importance from the viewpoint of the examination of population differentiation. This study provides additional population genetic data of the Hungarian population on the thirteen CODIS core STR loci and on two penta STRs (PentaE, PentaD). Allele frequency and profile databases were generated for four population samples.

Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.

The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe.

To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c.

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes.

The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples.

Canine STR analyses in forensic practice. Observation of a possible mutation in a dog hair.

In a case of the death of a 7-year-old boy, the police investigations revealed a possible dog attack contrary to the witness testimonies. DNA investigations were carried out from hairs, saliva and bloodstains with 10 canine-specific STR loci by the use of fluorescently labelled multiplex PCR and the ABI PRISM 310 genetic analyzer. The analysis of one hair sample revealed one allele deviation from the profile of the putative Rottweiler perpetrator possibly caused by a mutation.

Canine microsatellite polymorphisms as the resolution of an illegal animal death case in a Hungarian zoological gardens.

Several animal carcasses were found in the paddocks of a Hungarian County Zoo during 1 week. The 14 animals killed were thought to be the victims of a dogfight training. The primary suspect was the security guard of the Zoo with his guard dogs.

Variations in primer sequences are the origin of allele drop-out at loci D13S317 and CD4.

STRs have become almost the exclusive tool of genetic scientists in forensic typing work. Consequently, large numbers of samples are genotyped and the detection of rare abnormalities is to be expected. We found rare losses of alleles, also known as drop-out, at the two STR loci D13S317 and CD4.

Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes.

The reference database of highly informative Y-chromosomal short tandem repeat (STR) haplotypes (YHRD), available online at http://ystr.charite.de, represents the largest collection of male-specific genetic profiles currently available for European populations.

Analysis of eight STR loci in two Hungarian populations.

A multiplex reaction for the eight STR loci D3S1358, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 was used to generate allele frequency databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. During the analysis two intermediate-sized alleles and a sequence variant allele were observed at the D7S820 locus. All three types of allelic variants were found to have modifications in the same block of a (T)9 stretch located within the 3' flanking region of each allele, which may indicate a possible higher mutation rate of this (T)9 block.

Analysis of eight STR loci in two Hungarian populations.

A collection of eight STR loci (D3S1358, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) was used to generate allele frequency databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. During the analysis two intermediate sized alleles and a sequence variant allele were observed at the D7S820 locus. All three types of allelic variants were found to have modification (deletion, insertion, transversion) in the same block of a (T)(9) stretch located within the 3' flanking region of each allele, which may indicate a possible higher mutation rate of this (T)(9) block.

A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males.

A 9-locus microsatellite framework (minimal haplotype), previously developed for forensic purposes so as to facilitate stain analysis, personal identification and kinship testing, has been adopted for the establishment of a large reference database of male European Y-chromosomal haplotypes. The extent of population stratification pertaining to this database, an issue crucial for its practical forensic application, was assessed through analysis of molecular variance (AMOVA) of the 20 regional samples included. Despite the notion of some significant haplotype frequency differences, which were found to correlate with known demographic and historic features of Europeans, AMOVA generally revealed a high level of genetic homogeneity among the populations analyzed.

Y-STR haplotyping in two Hungarian populations.

A set of seven Y-chromosomal STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393) with the addition of the bilocal marker DYS385 was used to generate male-specific haplotype databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. At the locus DYS385 three types of intermediate sized alleles were detected in six males. The presence of a (GA) dinucleotide, probably due to an (AA) deletion in the second (GAAA) repeat of the polymorphic repeat region leads to an intermediate allelle 17.

Population genetic data on four STR loci in a Hungarian Romany population.

A population study of Hungarian Romanies was carried out on the STR loci HumLPL, HumF13B, HumFES and HumF1301. There was little evidence for association of alleles within/between the four STR systems. Allele frequency distributions were significantly different between the Romany and the previously reported Central Hungarian population databases.

Fluorescence based co-amplification and automated detection of the STR loci HUMFIBRA and HUMD21S11 in a Hungarian Caucasian population sample.

Population data were generated for the STR systems HUMFIBRA and HUMD21S11 for a Hungarian Caucasian population sample residing in Baranya County, Hungary (127 unrelated individuals). The loci were coamplified using a fluorescence based PCR method and were typed automatically. For both loci 12 different alleles could be found including some variants.

[Use of polymerase chain reaction DNA studies in Hungarian legal practice].

The authors survey the application of polymerase chain reaction (PCR)-based DNA polymorphisms in the Hungarian forensic practice. The combined application of the presented 17 PCR-based sequence- or length-polymorphic DNA systems to criminal cases gives the power of individualization to the hand of the forensic scientist. The joint application of these genetic markers to disputed paternity cases enables the verification of paternity for an unexcluded man with the highest legal category, namely "paternity practically proved".

Semi-automatic DNA profiling in a Hungarian Romany population using the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO.

A population study of Hungarian Romanies was carried out for the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO. After multiplex PCR amplification semi-automatic DNA profiling was performed using an ALF DNA sequencer. At the loci investigated there was little and no evidence for departures from Hardy-Weinberg expectations and linkage equilibrium, respectively.

A population study of the STR loci HUMLPL, HUMF13B, and HUMF13A01 in Hungary.

Allele frequencies of the three STR systems HUMLPL, HUMF13B, and HUMF13A01 were determined in a Hungarian population sample of 223 unrelated Caucasian individuals. All loci met Hardy-Weinberg expectations and there was no evidence for association of alleles among the three STR loci. In addition, little evidence was found for departures from expectations of independence between any of the three STR and other previously investigated microsatellite polymorphisms.

Comparative study on reused haemodialysis membranes.

Data have shown that on the internal surface of reused haemodialysis membranes complement elements of plasma proteins, cells and cellular debris from the patient's blood are deposited. The aim of our study was to identify the effect of reuse on the haemodialysis membrane surface. Original and reused haemodialysis membranes were studied by the methods of light, transmission and scanning electron microscopy, immuno-histochemistry and X-ray spectrum element analysis.

Hungarian population data on seven PCR-based loci.

Hungarian population data for the loci LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80 were generated. The genotype frequency distributions for the loci do not deviate from Hardy Weinberg expectations. Furthermore, there was little evidence for departures from expectations of independence between the loci.

Hungarian population data on six STR loci--HUMVWFA31, HUMTH01, HUMCSF1PO, HUMFES/FPS, HUMTPOX, and HUMHPRTB--derived using multiplex PCR amplification and manual typing.

We present a Hungarian population study for six tetrameric short tandem repeat (STR) loci employing multiplex PCR amplification, electrophoresis of the PCR products in DNA sequencing gels and subsequent detection of allelic fragments by silver staining. The loci were HUMVWFA31, HUMTH01, HUMCSF1PO, HUMFES/ FPS, HUMTPOX, and HUMHPRTB. All loci met Hardy-Weinberg expectations in the examined Hungarian Caucasian population sample (N = 223 individuals).

Hungarian population data on the loci HLA-DQ alpha, LDLR, GYPA, HBGG, D7S8 and GC.

Population data studies for HLA-DQ alpha and PM loci (LDLR, GYPA, HBGG, D7S8, GC) were carried out on a Hungarian Caucasian population sample of 163 unrelated individuals. Whereas the observed PM allele frequencies were similar to those reported for Caucasians, significant differences were found for HLA-DQ alpha between the Hungarian and some Caucasian population data. All six loci meet Hardy-Weinberg expectations and there is no evidence for association between any pairs of loci.

AMPFLP analysis of the VNTR loci D1S80 and ApoB in Hungary.

Population data studies for D1S80 and ApoB were carried out on a caucasian population sample from Hungary of 229 and 222 unrelated individuals, respectively. We observed 26 different alleles for D1S80 and 13 for ApoB. The allele frequencies found are similar to those reported in the literature for European caucasians.