Paternity analysis based on NGM SElect system in the Medical and Forensic Genetics Laboratory, Department of Forensic Medicine, Medical University of Lodz.

The aim of the study was to evaluate the usefulness of the NGM SElect multiplex kit for paternity testing in the population of central Poland, and compare it with the IDENTIFILER system. The study material consisted of buccal swabs taken from individuals who reported to the Medical and Forensic Genetics Laboratory in Lodz. Samples from 450 trio cases of disputed paternity carried out in 2010-2014 were investigated. Genomic DNA was extracted from buccal swabs collected from 1,350 individuals using the Swab kit (A and A Biotechnology) according to the manufacturer's protocol. DNA amplification was performed using the AmpFℓSTR® NGM SelectTM PCR Amplification Kit (Life Technologies). PCR products were separated by capillary electrophoresis using HID 3500 Genetic Analyzer. In the analyzed cases with paternity confirmation in the NGM SElect system, the maximum value of PI was 3.9 × 1012, which corresponds to the probability of paternity W = 99.9999999999%. It was thus significantly higher than analogical parameters obtained in the IDENTIFILER system (PI = 6.0 × 1010, W = 99.99999999%). The NGM SElect kit was unable to resolve just one case out of 450, which represents only 0.2% of all analyzed disputed paternity cases. The study showed the SE33 (ACTBP2) locus to have the highest evidence value in paternity analysis out of all investigated autosomal STRs.

Dangers resulting from DNA profiling of biological materials derived from patients after allogeneic hematopoietic stem cell transplantation (allo-HSCT) with regard to forensic genetic analysis.

The study documents the risk that comes with DNA analysis of materials derived from patients after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in forensic genetics. DNA chimerism was studied in 30 patients after allo-HSCT, based on techniques applied in contemporary forensic genetics, i.e. real-time PCR and multiplex PCR-STR with the use of autosomal DNA as well as Y-DNA markers. The results revealed that the DNA profile of the recipient's blood was identical with the donor's in the majority of cases. Therefore, blood analysis can lead to false conclusions in personal identification as well as kinship analysis. An investigation of buccal swabs revealed a mixture of DNA in the majority of recipients. Consequently, personal identification on the basis of stain analysis of the same origin may be impossible. The safest (but not ideal) material turned out to be the hair root. Its analysis based on autosomal DNA revealed 100% of the recipient's profile. However, an analysis based on Y-chromosome markers performed in female allo-HSCT recipients with male donors demonstrated the presence of donor DNA in hair cells - similarly to the blood and buccal swabs. In the light of potential risks arising from DNA profiling of biological materials derived from persons after allotransplantation in judicial aspects, certain procedures were proposed to eliminate such dangers. The basic procedures include abandoning the approach based exclusively on blood collection, both for kinship analysis and personal identification; asking persons who are to be tested about their history of allo-HSCT before sample collection and profile entry in the DNA database, and verification of DNA profiling based on hair follicles in uncertain cases.

Donor-derived DNA in hair follicles of recipients after allogeneic hematopoietic stem cell transplantation.

The hair follicles of recipients of allogeneic hematopoietic SCT (HSCT) constitute the tissue with the greatest need for regeneration after high-dose chemotherapy. Previous studies have shown a lack of donor-derived DNA in the hair follicles of recipients. Therefore, we carried out a study to determine whether male donor-derived genetic material can be found in female recipients' hair follicles after HSCT. Fluorescent-based PCR with analyses of Y-chromosome STR (Y-STR) and RQ-PCR with the sex-determining region Y (SRY) were used independently to evaluate chimerism status. Our results proved the existence of donor-derived stem DNA in the recipients' hair follicle cells. This report undermines the validity of data indicating that hair follicle cells maintain 100% of recipient origin.

Population database on 15 autosomal STR loci in 1000 unrelated individuals from the Lodz region of Poland.

Allele frequency data and forensic efficiency parameters for 15 STR loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA, were estimated from the sample of 1000 unrelated individuals from the Lodz region of Poland. The combined MP and PE for all 15 loci are 4.8 x 10(-18) and 0.9999989, respectively. The comparison of our data with other Polish populations revealed statistically significant differences in 6 out of 15 loci between Lodz and the Podlasie region of Poland.

Population genetics of 15 autosomal STR loci in the population of Pomorze Zachodnie (NW Poland).

Allele frequency data and forensic efficiency parameters for 15 STR loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA were estimated from a sample of 600 unrelated individuals from the Pomorze Zachodnie (NW Poland). The combined MP and PE for all 15 loci are 3.9x10(-18) and 0.9999988, respectively. Pairwise comparisons between Northwestern Poland and other Polish populations were performed.

Will genetic polymorphism of tetranucleotide sequences help in the diagnostics of major psychiatric disorders?

Expecting a significant breakthrough in the diagnosis of complex disorders of neuropsychiatric background, intensive efforts are taking place to establish genetic markers correlated with these disorders. During the last decade, this research was focused on code regions connected with neurotransmission and metabolism of catecholamines. Nowadays big diagnostic expectations are associated with sequences of STR type, which are widespread throughout the genome. These microsatellite sequences do not code proteins, but may have function of regulatory elements in the process of gene transcription and expression. One of these is polymorphic TH01 locus with TCAT tetranucleotide repetitive motive. It is located in chromosomal position 11p15 in the first intron of the tyrosine hydroxylase gene (TH). We examined the existence of the association between polymorphism of TH01 marker and schizophrenia. The results of statistical comparative analysis between neuropsychiatric patients from Poland and their regionally matched healthy subjects were presented.

Genetic diversity and forensic evaluation of 10 STR loci in Lodz region of Poland.

Allele frequency data and forensic efficiency parameters for 10 STR loci: D3S1358, vWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA, were estimated from a sample of 207 unrelated individuals in Lodz region of Poland.