-
[show abstract]
[hide abstract]
ABSTRACT: The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from reference blood samples. AmpFlSTR Identifiler PCR Amplification Kit and ABI 310 Genetic Analyzer (Applera) were used to obtain genetic profiles. Frequency of LOH was calculated for respective samples. Fisher's exact test was performed for statistical analysis. Forty-two percent of the 101 cancer cases analysed were found to possess alterations of the microsatellites manifesting with allelic loss. The most frequently altered loci were D3S1358 and D18S51. The alteration was detected in 47% of cases with larynx carcinoma, 44% of cases with uveal melanoma, 60% of cases with cervical cancers, one case of liposarcoma G3 and one case od neurofibrosarcoma. No LOH was found in liposarcoma G1, dermatofibrosarcoma and cystosarcoma protuberans in either primary or recurrent tumours. In benign tumours (lipoma and fibroma) LOH was also absent. During genotyping of DNA extracted from histopathological tissue sections caution should be taken when non-match or exclusion based on few discrepancies is concluded.
Folia Histochemica et Cytobiologica 02/2009; 47(1):105-10. · 0.81 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Y-STRs are of an importance in forensic genetics in cases of selective genotyping of male haplotypes and/or determination of a number of perpetrators. Experimental vaginal swabs containing semen were collected to evaluate the effect of storage conditions and male/female DNA ratio on the efficiency of amplification of Powerplex Y system alleles. The specimens were collected on disposable devices from 20 volunteer pairs of sexual partners. The swabs were stored on selected supports in different temperature conditions. DNA templates were extracted using Chelex and quantitated spectrophotometrically. Powerplex Y system (Promega) ABI Prism 310 (Applera) were used to obtain Y-STR profiles. Vaginal swabs airdryed at room temperature were found the best source of DNA for male identification. Full Y-STR haplotypes were obtained in male/female mixtures prepared in proportion of 1 : 1000.
Annales Academiae Medicae Stetinensis 01/2007; 53 Suppl 2:28-32; discussion 32.
-
[show abstract]
[hide abstract]
ABSTRACT: Objective of the research included calculation of biostatistical indexes and forensic efficiency parameters and deepening knowledge on genetic structure of the population considering historical background and ethnic composition.
Forensic genetic markers were typed in a total of 620 individuals in population samples of Poles and minorities of Byelarussians, Lithuanians, Polish Tatars and Old Believers.
Genetic polymorphisms analysed using statistic methods may be informative in differentiation of populations and ethnic groups. Variation in distributions of genetic markers in northeastern Polish populations should be considered when evaluating matching probability of forensic evidence.
Annales Academiae Medicae Stetinensis 01/2007; 53 Suppl 2:71-5; discussion 75.
-
[show abstract]
[hide abstract]
ABSTRACT: In consecutive stages of postmortem decomposition human hard tissues e.g. bones and teeth have been the most suitable material for genetic identification, however, its processing and DNA extraction is relatively costly and time-consuming. The aim of the study was the assessment of the environmental effect on typeability of AmpFlSTR SGM Plus loci in the kidney. The specimens were collected during autopsies of five persons aged 20-30 years with post mortem interval (PMI) limited to 14 hours, and subsequently incubated at 21 degrees C and 4 degrees C in different environmental conditions. DNA was extracted by the organic method from tissue samples collected in 7-day intervals and subsequently typed using AmpFlSTR SGM Plus kit and ABI 310. The fastest decline of SGM Plus profiles was noted in specimens incubated at 21 degrees C in closed containers. The specimens incubated at 4 degrees C in closed containers were the most stable for SGM Plus typing. The differences in typeability rates for specimens incubated at 21degrees C in open vs. closed containers can be attributed to desiccation of the outermost layers of the former specimens.
Annales Academiae Medicae Stetinensis 01/2007; 53 Suppl 2:62-4; discussion 64.
-
[show abstract]
[hide abstract]
ABSTRACT: The genetic changes in DNA microsatellites - short, tandem repeat segments dispersed throughout the human genome - probably play a role in carcinogenesis. Microsatellite instability (MSI) is reflected in alterations in the patterns of these polymorphic repeat segments. In our study, human sarcomas were analyzed for the presence of microsatellite instability and loss of heterozygosity (LOH).
Studies were performed on tissue specimens obtained at surgical resection from 20 patients with malignant and non-malignant soft tissue tumors (8 G1 sarcomas, 8 G3 sarcomas, 2 lipomas and 2 fibromas). Samples of venous blood from the patients served as respective controls. DNA was isolated using organic extraction. Additional microcolumn purification was performed. Fluorescent multiplex polymerase chain reaction (PCR) was used to amplify 10 microsatellite loci included in commercially available human identification kits. Microsatellite marker BAT 26 was amplified in separate PCR reactions.
All the G3 sarcomas manifested MSI. MSI was detected on 12p in all the specimens except for recurrent synovial sarcomas. LOH in BAT 26 analysis (chromosome 2) was present in 75% of G3 sarcomas. No MSI or LOH was found in G1 sarcomas or in benign tumors.
Genomic instability may contribute to tumorgenesis in sarcomas, and both MSI and LOH may reflect genomic instability in sarcomas. These parameters may be helpful in the differential diagnosis of malignant versus nonmalignant lesions.
Medical science monitor: international medical journal of experimental and clinical research 03/2005; 11(2):BR65-8. · 1.70 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The goal of this work is to evaluate DNA in the direction of gene mutation in the patients with nasal polyps and/or recurring inflammation of the sinuses, and who tested negative for allergic basis of those ailments.
50 patients aged 20-45 have been included in the research by the University Hospital and the Laryngological Outpatient Clinic SPSK in Białystok. The patients had symptoms of nasal polyps and recurring inflammation of the sinuses. The analysis of DNA samples of the blood according to the PCR method using the ABI Prism 3100 device and testing for finding mutations of cystic fibrosis--The Cystic Fibrosis Assay.
We discovered 1 mutation of delta F508 in a 40-year-old patient, with recurring inflammation of nasal sinuses (described in the case of this patient).
The DNA research method can be used for discovering atypical forms of CF in patients with recurring symptoms of the inflammation of the sinuses and nasal polyps, and who tested negative for allergic basis of those ailments. A wide routine screening in the direction of the mutation of CF may lead to an explanation the reason of the nasal polyps and inflammation of the sinuses.
Otolaryngologia polska. The Polish otolaryngology 02/2005; 59(4):571-5.
-
[show abstract]
[hide abstract]
ABSTRACT: Laboratories worldwide are contributing to a large and growing database for different populations. This study provides a 10 STR database for a population sample of Polish Tatars living in the area of Podlasie for the use as a highly discriminatory system of genetic markers in the forensic community. The genotype frequency distributions showed no deviations from the Hardy-Weinberg equilibrium (HWE) except for D3S1358, FGA, D18S51 and D16S539, based on the Fisher Exact Test. Significant differences between the Polish Tatars and the native population of Podlasie were found in loci D3S1358, FGA, D2S1338, D21S11 and D19S433. The combined values of the Matching Probability and of the Power of Exclusion are 1 in 2.83 x 10(-12) and 0.998, respectively.
Folia morphologica 06/2004; 63(2):249-52. · 0.52 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The aim of the study was to evaluate the possible occurrence of loss of heterozygosity (LOH) at microsatellite marker localised near the area for metalloproteinase gene in the anterior capsule, lens nucleus, iris and trabeculum samples taken from patients with pseudoexfoliation syndrome (PEX).
In our study we examined 19 patients (12 women and 7 men) with PEX syndrome who underwent surgical treatment for glaucoma, cataract or both at the same time. The mean age was 75.5 +/- 4.7, range 64-86. Specimens of the iris, anterior capsule, trabeculum and lens nucleus were taken to evaluate the possible occurrence of LOH at microsatellite marker D7S820 with fluorescent multiplex PCR method.
LOH was displayed in 44% specimens of anterior capsule, 33% of iris specimen. In lens nucleus and trabeculum specimen LOH did not occur.
The high frequency of LOH in PEX patients at locus D7S820 suggests that genetic factors may be involved in the etiology and pathogenesis of PEX.
Klinika oczna 02/2004; 106(1-2 Suppl):153-4.
-
[show abstract]
[hide abstract]
ABSTRACT: The aim of the study was evaluation of genetic changes: loss of heterozygosity (LOH) and microsatellite instability (MSI) in the genome of cells of the uveal melanoma.
The incidence of MSI and LOH in cells of uveal melanomas was examined in tissue specimens obtained at surgical resection of the tumour in 14 patients. The results were related to respective MSI and LOH incidence in the genome of peripheral blood cells of the same patients. DNA was isolated with organic extraction. The fluorescent multiplex polymerase chain reaction (PCR) was used to amplify microsatellite loci included in commercially available human identification kits. Phenotyping was performed with the use of ABI Prism 310 Genetic Analyzer.
MSI and LOH was found in 6 of 14 cases of uveal melanoma, manifested at one or more loci. MSI was present in chromosomes 3, 11 and 16. LOH was detected in chromosomes: 2, 3, 8, 13, 16 and 19. Genetic instability of the LOH/MSI type was detected in 3 patients with long anamnesis and large tumor infiltrating retrobulbar structures (pT4 feature). Two patients died within a year because of generalized cancer disease.
1 Loss of heterozygosity and microsatellite instability is present in uveal melanomas. 2. Genetic instability of LOH/MSI type associates with advanced size of tumour and progression of neoplastic disease.
Klinika oczna 02/2003; 105(6):401-5.
-
[show abstract]
[hide abstract]
ABSTRACT: Microsatellites of DNA--short, tandem repeat segments dispersed throughout the human genome--probably play a role in carcinogenesis. In this study the presence of microsatellite instability (MSI) was evaluated in skin cancers. Only one specimen (basal cell carcinoma) out of twelve skin cancers exhibited MSI at chromosome 2. MSI was not found in benign skin lesions (seborrhoeic verruca, keratoacanthoma, senile keratosis).
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 11/2002; 13(76):281-3.
-
[show abstract]
[hide abstract]
ABSTRACT: DNA can be isolated from a variety of human sample sources including anti-coagulated whole blood, bloodstains, hairs, tissue samples and buccal epithelial cells. The purpose of the study was to compare yield and quality of DNA samples obtained with the use of five commercial DNA extraction kits.
Roczniki Akademii Medycznej w Białymstoku (1995). 02/2002; 47:270-5.
-
[show abstract]
[hide abstract]
ABSTRACT: Results of 255 disputable paternity cases analysed with the use of DNA techniques were reviewed. Probability calculations based on population data has been generated to demonstrate the usefulness of STR multiplex systems for forensic analysis in paternity determination.
Roczniki Akademii Medycznej w Białymstoku (1995). 02/2002; 47:287-93.
-
[show abstract]
[hide abstract]
ABSTRACT: The objective of the paper is to determine the allele frequencies for four X-chromosomal STRs determined in a population sample of 294 unrelated volunteers (191 males and 103 females) belonging to the Belarusian minority residing in northeastern Poland. A commercially available kit Mentype Argus X-UL (Biotype AG, Germany) was used to co-amplify X-STR loci: DXS8378, DXS7132, HPRTB and DXS7423. Electrophoresis and typing were performed by automated fluorescent detection in an ABI 310 Genetic Analyzer. The genotype distributions among the females conformed to HWE for all the analyzed loci. The evaluated quadruplex is a potential extension to a battery of autosomal systems in forensic applications, particularly in kinship analysis and in casework samples from sexual assaults.
Archiwum medycyny sa̧dowej i kryminologii 56(4):232-5.
-
[show abstract]
[hide abstract]
ABSTRACT: Population genetic data for 10 STRs included in the Humantype Chimera kit were obtained by multiplex PCR and subsequent automated fluorescent detection (ABI 310) from a sample of 220 unrelated individuals of Polish ancestry residing in north-eastern Poland. The genotype distributions conformed to HWE for all the analysed loci. The highly polymorphic systems exhibit a high informativeness and may be helpful in cases requiring an extension of the CODIS loci system, particularly in kinship analysis and deficiency cases.
Archiwum medycyny sa̧dowej i kryminologii 57(2):248-51.
-
[show abstract]
[hide abstract]
ABSTRACT: Allele frequencies for four X-chromosomal STR were determined in a population sample of 1308 unrelated males and females from north-eastern Poland by multiplex PCR and subsequent automated fluorescent detection (ABI 310) using a commercially available multiplex PCR kit (Mentype Argus X-UL). The obtained data support the idea of genetic diversity among population groups of north-eastern Poland. The analysed quadruplex is a potential extension of the battery of autosomal systems in forensic applications, especially in the investigation of kinship analysis and deficiency cases.
Archiwum medycyny sa̧dowej i kryminologii 57(2):252-5.
-
[show abstract]
[hide abstract]
ABSTRACT: The objective of the paper was to assess the effect of gamma-irradiation on typeability of AmpFISTR SGM Plus loci in selected tissue specimens collected during forensic autopsies. Full AmpFISTR SGM profiles were obtained after gamma-irradiation of 150Gy. At the dose of 200Gy a gradual loss of longer amplicons was noted. In terms of AmpFISTR SGM Plus typeability, the thyroid gland and kidney were the most vulnerable to gamma-irradiation.
Archiwum medycyny sa̧dowej i kryminologii 57(2):256-8.
-
[show abstract]
[hide abstract]
ABSTRACT: Allele frequencies for four X-chromosomal STR were determined in a population sample of 240 unrelated males and females from north-eastern Poland by multiplex PCR and subsequent automated fluorescent detection (ABI 310) using a commercially available multiplex PCR kit (Mentype Argus X-UL). The genotype distributions among the females conformed with HWE for all analysed loci. The analysed quadruplex is a potential extension to a battery of autosomal systems in forensic applications, especially in the investigation of kinship analysis and deficiency cases.
Archiwum medycyny sa̧dowej i kryminologii 55(2):154-6.
-
Jerzy Janica,
Maria Rydzewska-Dudek,
Anna Niemcunowicz-Janica,
Tomasz Dopierała,
Witold Pepiński, Małgorzata Skawrońska,
Ewa Koc-Zórawska,
Zofia Wardaszka,
Janusz Załuski,
Iwona Ptaszyńiska-Sarosiek,
Wojciech Stepniewski,
Magdalena Okłota
[show abstract]
[hide abstract]
ABSTRACT: The paper illustrates the history, scientific and teaching achievements of the Department of Forensic Medicine, Medical University of Bialystok in commemoration of its 50th Anniversary.
Archiwum medycyny sa̧dowej i kryminologii 54(4):195-200.
-
[show abstract]
[hide abstract]
ABSTRACT: A population study on 10 STR loci: D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA was performed on 620 unrelated individuals born in Podlasie (NE Poland). The DNA was amplified by multiplex PCR using a commercially available multiplex AmpFISTR SGM Plus kit. Capillary electrophoresis with fluorescent detection was carried out using the ABI 310 Genetic Analyzer. The expected performance of the analysed loci for personal identification and paternity testing was estimated. All loci met the Hardy-Weinberg assumption. No significant differences between the studied population and other Polish data were found. The combined values of the Matching Probability and of the Power of Exclusion are 4.18 x 10(-13) and 0.99997, respectively.
Archiwum medycyny sa̧dowej i kryminologii 53(1):49-56.
-
[show abstract]
[hide abstract]
ABSTRACT: In cases of decomposed bodies, Y chromosomal STR markers may be useful in identification of a male relative. The authors assessed typeability of PowerPlex Y (Promega) loci in post mortem tissue material stored in various environments. Kidney, spleen and pancreas specimens were collected during autopsies of five persons aged 20-30 years, whose time of death was determined within the limit of 14 hours. Tissue material was incubated at 21 degrees C and 4 degrees C in various environmental conditions. DNA was extracted by the organic method from tissue samples collected in 7-day intervals and subsequently typed using the PowerPlexY-STR kit and ABI 310. A fast decrease in the typeability rate was seen in specimens incubated in peat soil and in sand. Kidney tissue samples were typeable in all PowerPlexY-STR loci within 63 days of incubation at 4 degrees C. Faster DNA degradation was recorded in spleen and pancreas specimens. In samples with negative genotyping results, no DNA was found by fluorometric quantitation. Decomposed soft tissues are a potential material for DNA typing.
Archiwum medycyny sa̧dowej i kryminologii 57(4):385-8.
