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1.
Genes (Basel) ; 13(10)2022 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-36292568

RESUMEN

(1) Background: Insertion-deletion (InDel) markers show the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) and are considered alternative markers in forensic genetics. (2) Methods: Allelic frequencies and corresponding forensic efficiency parameters of 30 autosomal polymorphic InDel loci included in the Investigator DIPplex kit (Qiagen) were obtained in a sample of 631 unrelated Polish individuals. Allelic frequency data were compared with those reported for selected populations (3) Results: All the loci conformed with Hardy-Weinberg equilibrium after applying a Bonferroni correction and no pair-wise significant linkage disequilibrium was detected. (4) Conclusions: DIPplex Kit differences were high among populations worldwide. The InDel markers are highly discriminating for human identification purposes in the Polish population.


Asunto(s)
Genética de Población , Mutación INDEL , Humanos , Polonia , Frecuencia de los Genes/genética , Polimorfismo de Nucleótido Simple/genética
2.
Arch Med Sadowej Kryminol ; 72(4): 200-210, 2022.
Artículo en Inglés, Polaco | MEDLINE | ID: mdl-37405840

RESUMEN

Background: The use of new high-resolution and forensic identification capabilities for population studies offered by new multiplex methods (such as Yfiler Plus) is crucial in forensic genetics cases. The development of haplotype frequency databases is essential to take full advantage of the new Y chromosome determination capabilities. Purpose: Development of the haplotype database of the Yfiler Plus kit for a population-based sample of 534 males from northeastern Poland and calculation of suitability parameters for forensic genetics studies. Materials and methods: The study was conducted on a population sample of 534 unrelated males from the area of northeastern Poland using the Yfiler Plus panel of 27 markers located on the Y chromosome. Results: Four haplotypes appeared twice. The Discrimination Capacity (DC) of the entire set was 0.9925. The highest Gene Diversity (GD) value was calculated for DYS518 (0.86) belonging to the fast-mutation markers, while the lowest GD was calculated for DYS392 (0.42). Conclusion: The results indicate the need for further research and observation of changes, both in different regions of Poland and across Europe.

3.
Cent European J Urol ; 73(3): 362-368, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33133666

RESUMEN

INTRODUCTION: The aim of the study was to evaluate the frequency of occurrence of Chlamydia trachomatis (C.t.) DNA in the prostate material in the group of individuals with the chronic prostatitis. MATERIAL AND METHODS: The study included 65 males aged between 47 and 68 years of age, reporting for transrectal prostate biopsy because of the elevated serum prostate-specific antigen concentration and/or abnormalities detected in prostate palpation per rectum. The urethral smear collection was performed in all the patients in order to detect C.t. DNA. After that, the transrectal prostate biopsy was performed (histopathology tests, C.t. DNA). Additionally, the levels of anti-C.t. IgG antibodies and anti-C.t. IgA antibodies were checked in the serum. The DNA isolation from prostate specimens was conducted with the use of the Chelex method, while the C.t. DNA detection - with the ligase chain reaction. Specific antibodies were detected with the use of the ELISA method. RESULTS: C.t. DNA in the prostate gland was found in 7 out of 65 men (10.8%). In urethral smear, C.t. was found in none of the individuals. Anti-C.t. IgA antibodies were detected in the serum of 16/65 (24.6%), while anti-C.t. IgG antibodies in 6/65 (9.2%) of the examined males. IgA antibodies were found in two and IgG in one out of the 7 men who had C.t. infection in the prostate. CONCLUSIONS: The presence of C.t. DNA in the prostate gland may be indicative of the role of chlamydia in the development of chronic prostatitis.

4.
Arch Med Sadowej Kryminol ; 68(4): 281-289, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-31025845

RESUMEN

AIM OF THE STUDY: Analysis of frequency and structure of paternity exclusions in the material collected by the Department of Forensic Medicine, Medical University of Bialystok in 2008-2017. MATERIAL AND METHODS: The paper is based on paternity test reports involving alleged father-child-mother trios. In a total of reviewed 958 cases, 187 exclusions were identified. The analysis was carried out on the basis of the results of DNA tests. DNA extraction was performed using QIAamp DNA Mini Kit (Qiagen) and DNA quantitation using Quantifiler Human DNA Quantification Kit and 7500 Real-Time PCR System (Applied Biosystems). AmpFLSTR Identifiler PCR Amplification Kit and a PCR System 9700 thermal cycler (Applied Biosystems) were used for DNA amplification. RESULTS: Over the analyzed period, the number of paternity tests was nearly halved, whereas the percentage of exclusions in individual years varied significantly (33.9-13.3%), with the average of 26.3%. The highest efficiency of exclusions was observed for D18S51 (0.7166) and FGA (0.7059), and the least effective system was TPOX (0.3048). CONCLUSIONS: The applied set of markers has been demonstrated to be an efficient tool in genetic paternity tests in the context of the recommended rules of exclusion.


Asunto(s)
Cromosomas Humanos Y/genética , Dermatoglifia del ADN/métodos , Medicina Legal/métodos , Paternidad , Centros Médicos Académicos , Adulto , Niño , ADN/genética , Femenino , Humanos , Masculino , Polonia , Polimorfismo Genético/genética
5.
Anthropol Anz ; 74(4): 263-268, 2017 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-28817155

RESUMEN

ABSTRACT: The purpose of the paper was to report allelic frequencies of 15 autosomal STR markers (AmpFlSTR NGM PCR Amplification Kit) for Bedouin inhabitants in the area of the Fourth Nile Cataract in Sudan, and compute commonly used population and forensic biostatistical parameters. Buccal swabs were collected from 117 unrelated individuals. DNA was extracted using DNA QIAamp® DNA Mini Kit, and quantitated with Quantifiler Human Quantification Kit in a 7500 Real-Time PCR System. Amplification of 15 AmpFlSTR NGM PCR Kit loci was performed in PCR System 9700. Electrophoresis and typing were performed in 3130 Genetic Analyzer. Arlequin v3.5 software and PowerStats v1.2 spreadsheet were used for statistical calculations. The STR frequency distributions showed no deviations from HWE. The combined values of Matching Probability and Power of Exclusion are 1.77 × 10-18 and 0.9999996, respectively. The average observed heterozygosity over 15 loci is 0.8069. Five different allelic microvariants were found. A significant linkage disequilibrium was observed in five pairs of loci. A 15 STR population database has been established for Sudanese Bedouins. The systems studied have been shown to be useful tool for personal identification in this population.


Asunto(s)
Árabes/genética , Variación Genética/genética , Repeticiones de Microsatélite/genética , Genética de Población , Humanos , Desequilibrio de Ligamiento , Reacción en Cadena de la Polimerasa , Sudán
6.
Arch Med Sci ; 13(1): 93-99, 2017 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-28144260

RESUMEN

INTRODUCTION: Interleukin-6 (IL-6) is a cytokine with a complex function that is described as both pro- and anti-inflammatory. One factor that influences its function is the rs2228145 A/C single nucleotide polymorphism (SNP) of the IL-6 receptor (IL6R) gene. C allele carriers have a decreased inflammatory response and decreased prevalence of ischemic heart disease. The aim of the study was to investigate the association of the rs2228145 SNP of the IL6R gene with long-term total mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. MATERIAL AND METHODS: We analyzed the data of consecutive patients with ST elevation myocardial infarction (STEMI) treated with primary percutaneous coronary intervention (PCI). Genotyping was performed with the TaqMan method. The analyzed end-point was total long-term mortality (median: 2875 days). RESULTS: The registry comprised 553 patients (mean age: 62.4 ±11.9 years; 25.6% females, n = 142; TIMI 3 obtained in 91.7% of patients, n = 507). No significant differences in baseline characteristics were found between the genotypes. During long-term follow-up 171 (30.9%) patients died. There was non-significantly higher mortality in the rs2228145 AA homozygotes compared to C allele carriers (OR = 1.34, 95% CI: 0.93-1.93, p = 0.1). CONCLUSIONS: The rs2228145 polymorphism of IL6R was not significantly associated with long-term mortality after STEMI. However, AA homozygotes (high-risk genotype for ischemic heart disease) showed a trend towards adverse outcome compared to C allele carriers. The observed trend is promising, but it requires independent replication studies.

7.
Heart Vessels ; 31(1): 15-22, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25155309

RESUMEN

Paraoxonase 1 (PON1) is an enzyme responsible for the antioxidant properties of high density lipoprotein (HDL). The activity of PON1 is decreased in patients with coronary artery disease, myocardial infarction or chronic kidney disease. rs662 and rs854560 are single nucleotide polymorphisms (SNPs) associated with PON1 activity and 10-year cardiovascular mortality of patients with stable coronary artery disease. We investigated the association of rs662 and rs854560 SNPs of the PON1 gene with 5-year mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. We analyzed the data of consecutive patients with STEMI treated with primary PCI. Genotyping was performed with the TaqMan method. The analyzed end-point was total 5-year mortality. Additional subgroup analysis was performed for survival of patients depending on their eGFR. The study group comprised 634 patients (mean age 62.3 ± 11.85 years; 25.2% of women, n = 160; PCI successful in 92.3%, n = 585). No clinically relevant differences in baseline characteristics were found between the genotypes. No association between either genotype and 5-year mortality was found: p = 0.4 for the rs662 SNP, p = 0.73 for the rs854560 one (log-rank test). However, in a subgroup of patients with eGFR below median value (78.6 ml/min/1.73m2) the rs854560 AA homozygotes had a significantly lower probability of survival (p = 0.047, log-rank test). The AA genotype of the rs854560 SNPs of the PON1 gene is associated with increased mortality in patients after myocardial infarction in the subpopulation of patients with lowered eGFR. This phenomenon may be explained by potentially lower PON1 activity in kidney disease.


Asunto(s)
Arildialquilfosfatasa/genética , Infarto del Miocardio/genética , Infarto del Miocardio/mortalidad , Polimorfismo de Nucleótido Simple , Anciano , Femenino , Genotipo , Tasa de Filtración Glomerular , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Polonia , Pronóstico
8.
Heart Vessels ; 31(10): 1590-4, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26615606

RESUMEN

The aim of the study was to find whether patients carrying polymorphic allele of the rs10757278 polymorphism from 9p21 locus have changed risk of arrhythmia (atrial fibrillation, AF; sustained ventricular tachycardia or ventricular fibrillation, sVT/VF) during acute phase of myocardial infarction. Retrospective analysis of data collected prospectively from two independent centers was performed. The clinical data were pooled from two independent cardiac registries: (1) the Warsaw ACS genetic registry (STEMI and NSTEMI/UA patients hospitalized in the years 2008-2011; only STEMI patients were analyzed); (2) the Bialystok STEMI genetic registry (STEMI patients hospitalized in years 2001-2005, who survived the first 48 h from hospital admission). Data regarding sVT/VF and AF within first 24 h were analyzed. The patients were genotyped with rs10757278 polymorphism. 1083 patients were included in the analysis; 62 (5.7 %) patients had sVT/VF during acute phase and 78 (7.2 %) patients had AF, 46 (4.2 %) patients had new-onset AF. Minor allele frequency in all patients with AF was significantly different from those without AF (0.40 vs 0.51, p = 0.0096). When only new-onset AF was analyzed, the trend was the same, with significant protective effect in recessive model [OR 0.41 (95 % CI 0.17-0.97), p = 0.025]. The effect was independent of age and GRACE score. No relationship was found between sVT/VF and rs10757278. Patients with STEMI, who survived until hospitalization with polymorphic allele of 9p21 rs10757278 SNP have less AF during acute phase of STEMI. SNP rs10757278 is not linked with sVT/VF in acute phase of STEMI.


Asunto(s)
Fibrilación Atrial/genética , Cromosomas Humanos Par 9/genética , Polimorfismo de Nucleótido Simple/genética , Infarto del Miocardio con Elevación del ST/complicaciones , Anciano , Alelos , Electrocardiografía , Femenino , Hospitalización , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Sistema de Registros , Estudios Retrospectivos , Factores de Riesgo , Taquicardia Ventricular/genética
9.
Adv Clin Exp Med ; 24(3): 437-40, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26467131

RESUMEN

BACKGROUND: Nucleated epithelial cells that are transferred by casual touching and handling of objects are the primary source of biological evidence that is found in high-volume crimes. Cellular material associated with touch traces usually contains low levels of DNA template making it challenging to acquire an informative profile. OBJECTIVES: The main purpose of this study was to examine the efficacy of DNA typing in fingerprints deposited on optical data discs and the office paper. MATERIAL AND METHODS: Latent fingerprints were made by 60 subjects of both sexes (30 males and 30 females). A highly effective DNA extraction method with QIAamp DNA Mini Kit (Qiagen) and an increased sensitivity PCR by AmpFlSTR® NGM™ Amplification Kit (Applied Biosystems) carried out at standard 30 cycles and at increased 34 cycles were used. RESULTS: The mean value of total DNA recovery was 0.4 ng from CDs/DVDs and 0.3 ng from the office paper. Amplification of Low Template DNA (LT-DNA) resulted in improved analytical success by increasing the number of PCR cycles from standard 30 to 34. On the other hand, the increased PCR cycles resulted in allele drop-ins showing additional peaks, the majority of which were outside the stutter positions. CONCLUSIONS: Rigorous procedures and interpretation guidelines are required during LT-DNA for producing reliable and reproducible DNA profiles for forensic purposes.


Asunto(s)
Discos Compactos , Dermatoglifia del ADN/métodos , ADN/aislamiento & purificación , Células Epiteliales/química , Papel , Reacción en Cadena de la Polimerasa , Dermatoglifia del ADN/instrumentación , Femenino , Humanos , Masculino , Reacción en Cadena de la Polimerasa/instrumentación , Juego de Reactivos para Diagnóstico , Reproducibilidad de los Resultados
10.
PLoS One ; 10(6): e0129820, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26086777

RESUMEN

OBJECTIVE: The rs12526453 (C/G) is a single nucleotide polymorphism in an intron of the PHACTR1 gene (phosphatase and actin regulator 1). The C allele is associated with increased risk of coronary artery disease in an unknown mechanism. We investigated its association with long-term overall mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. METHODS: Two independent groups of patients with STEMI were analyzed: a derivation group (n= 638) and a validation one (n=348). Genotyping was performed with the TaqMan method. The analyzed end-point was total long term mortality. Additionally, transcriptomic analysis was performed in mononuclear blood leukocytes from rs12526453 CC monozygotes or G allele carriers. RESULTS: In the study group (mean age 62.3 ± 11.9 years; 24.9% of females, n=159), percentages of CC, CG, and GG genotypes were 45.3% (n=289), 44.7% (n=285), and 10% (n=64), respectively. In the 5-year follow-up 105 patients died (16.46%). CC homozygotes had significantly lower mortality compared to other genotypes: 13.1% (n=38) vs. 18.3% in G-allele carriers (n=67), (p=0.017, Cox`s F test). In the validation group 47 patients died within 3 years (13.5%). We confirmed lower mortality of CC homozygotes: 10.1 % (n=18) vs. 16.95% in G-allele carriers (n=29), (p=0.031, Cox`s F test). Transcriptomic analysis revealed a markedly higher expression of NLRP-2 in CC homozygotes. CONCLUSIONS: The rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) showed, in 2 independent samples, better long-term survival. The finding of such high effect size, after appropriate validation, could potentially be translated into clinical practice.


Asunto(s)
Proteínas de Microfilamentos/genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Anciano , Femenino , Humanos , Intrones , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Análisis de Supervivencia
11.
Pol Arch Med Wewn ; 125(4): 240-8, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25697262

RESUMEN

INTRODUCTION:  rs9982601 (C>T) is a polymorphism of the noncoding region between the SLC5A3/MRPS6 and KCNE2 genes. It has been shown to be associated with early-onset myocardial infarction (MI) with T as a risk allele. OBJECTIVES:  The aim of our study was to investigate the association of the rs9982601 polymorphism with long-term overall mortality from MI and prevalence of MI in a Polish population. PATIENTS AND METHODS:  The study involved patients with MI treated invasively. Individuals who underwent paternity testing served as a population group. Genotyping was performed by the TaqMan method. The analyzed endpoint was the overall long-term mortality. RESULTS:  The study group comprised 981 patients (mean age, 62.8 ±12.1 years; 259 women [26.4%]). The percentages of TT, CT, and CC genotypes were 3.1%, 25.6%, and 71.3%, respectively, in the whole group, and 2.4%, 16.8%, and 80.8% (P = 0.01) in the population group (n = 167). During follow-up (median, 1826 days), 157 patients died (16%). No significant differences were observed between the genotypes either in clinical characteristics or in mortality. However, in a subgroup of high-risk patients (GRACE risk score of 155 points or higher, n = 428), low-risk CC homozygotes had a significantly better survival rate compared with the other genotypes (hazard ratio, 0.64; 95% confidence interval, 0.43-0.96; P = 0.03). CONCLUSIONS:  We showed that the rs9982601 polymorphism of the region between SLC5A3/MRPS6 and KCNE2 genes is associated with long-term mortality in high-risk patients after MI. Additionally, our study supports the previous reports on the correlation of this polymorphism with the prevalence of MI.


Asunto(s)
Predisposición Genética a la Enfermedad , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/mortalidad , Polonia , Población Blanca/genética
12.
PLoS One ; 9(8): e104635, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25105296

RESUMEN

OBJECTIVE: The rs10757278, rs1333049 and rs4977574 are single nucleotide polymorphisms (SNPs) of chromosome 9p21 locus associated with a prevalence of acute coronary syndromes (ACS). Reports concerning their association with long-term outcome after an ACS are equivocal. The aim of our study was to investigate the association of the 9p21.3 locus with 5-year overall mortality in patients with ST-elevation myocardial infarction (STEMI). MATERIALS AND METHODS: We performed a retrospective analysis of data collected prospectively in 2 independent registries of consecutive patients with STEMI (derivation and validation group). Genotyping was performed with the TaqMan method. The analyzed end-point was total mortality. RESULTS: The derivation group comprised 589 patients: 25.3% female (n = 149), mean age 62.4 ± 12.0 years, total 5-year mortality 16.6% (n = 98). When all the study group was analyzed, no significant differences in mortality were found between the genotypes. However, in high-risk patients (GRACE risk score ≥ 155 points, n = 238), homozygotes associated with higher risk for ACS had significantly better 5-year survival compared to other genotypes. The hazard ratio associated with the high-risk genotype (a homozygote of high risk for ACS or a heterozygote) was: HR = 2.2 (1.15-4.2) for the rs10757278 polymorphism, HR = 2.7 (95% CI 1.3-5.4) for the rs4977574 one and HR = 2.3 (1.2-4.5) for the rs1333049 one (Cox proportional hazards model). Survival analysis in the validation group (n = 365) showed a clear trend towards better prognosis in GG homozygotes of the rs10757278 SNP, which confirms our initial results (p = 0.09, log-rank test). CONCLUSIONS: The 9p21.3 locus is associated with 5-year mortality in high-risk patients with STEMI. The genotypes associated with higher risk for ACS show a protective effect in terms of further survival (instead of a deteriorating prognosis, as reported previously). This finding, due to the very high size of the effect, could potentially be applied to clinical practice, if appropriate methods are elaborated.


Asunto(s)
Cromosomas Humanos Par 9/genética , Sitios Genéticos , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Anciano , Femenino , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Infarto del Miocardio/mortalidad , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Análisis de Supervivencia
13.
PLoS One ; 8(9): e72333, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24069144

RESUMEN

OBJECTIVE: The rs1333049, rs10757278 and rs4977574 are single nucleotide polymorphisms (SNPs) of chromosome 9p21 locus that are associated with prevalence of acute coronary syndromes (ACS). The rs1333049 SNP was also associated with cardiac outcome 6 months post ACS. No data concerning their association with long term prognosis after myocardial infarction is available. The aim of our study was to investigate the association of the 9p21.3 locus with 5-year overall mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. MATERIALS AND METHODS: We performed a retrospective analysis of data collected prospectively in a registry of consecutive patients with STEMI treated with primary PCI. Genotyping was performed with a TaqMan method. The analyzed end-point was total 5-year mortality. RESULTS: The study group comprised 589 patients: 25.3% of females (n = 149), mean age 62.4±11.9 years, total 5-year mortality 16.6% (n = 98). When all the study group was analyzed, no significant differences in mortality were found between the genotypes. However, in high-risk patients (Grace risk score ≥155 points, n = 238), low-risk homozygotes had significantly better 5-year survival compared to other genotypes. The hazard ratio associated with high-risk genotype (high-risk homozygote or heterozygote) was: HR = 2.9 (95%CI 1.4-6.1) for the rs4977574 polymorphism, HR = 2.6 (1.25-5.3) for the rs1333049 one and HR = 2.35 (1.2-4.6) for the rs10757278 one (Cox proportional hazards model). CONCLUSIONS: The 9p21.3 locus is associated with 5-year mortality in high-risk patients with STEMI. This finding, due to very high effect size, could potentially be applied into clinical practice, if appropriate methods are elaborated.


Asunto(s)
Cromosomas Humanos Par 9/genética , Infarto del Miocardio/genética , Infarto del Miocardio/mortalidad , Polimorfismo Genético/genética , Anciano , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/terapia , Estudios Retrospectivos
15.
Arch Med Sadowej Kryminol ; 60(4): 258-62, 2010.
Artículo en Polaco | MEDLINE | ID: mdl-21863733

RESUMEN

Detection of seminal stains on items such as clothing and bedding is a significant element of investigation in sexual assault cases. The use of alternative light source may assist in their identification. The objective of the investigation was the evaluation of human semen visualization with the use of alternative light source for the purpose of genetic identification. The tests demonstrated that experimentally prepared semen stains on the bright base could be best seen in the natural light and white light when the semen was diluted at a ratio 1:10. The complete typeability of AmpFISTR SGM Plus kit loci was evaluated in semen which was diluted at a ratio 1:1750 and typeability of AmpFISTR SGM Plus kit loci was incomplete in semen diluted at a ratio 1:2000. After washing with laundry detergents, semen stains were still recognizable under ALS wavelength 455 nm, while wearing orange goggles.


Asunto(s)
Fluorescencia , Patologia Forense/instrumentación , Luz , Semen/química , Humanos , Polonia , Sensibilidad y Especificidad , Manejo de Especímenes , Propiedades de Superficie
16.
Arch Med Sadowej Kryminol ; 60(4): 248-57, 2010.
Artículo en Polaco | MEDLINE | ID: mdl-21863732

RESUMEN

The objective of the investigation was evaluation of visualization of human blood and saliva stains with the use of alternative light source for the purpose of genetic identification. Experimental bloodstains on the bright base were the most clearly seen in the natural light and white light, up to blood dilution of 1:600. Complete typeability of AmpFISTR SGM Plus kit profiles was obtained from bloodstains at dilution 1:1500. Partial AmpFISTR SGM Plus kit profiles were typed from bloodstains at dilutions 1:1750 and 1:2000. Experimental saliva stains on the light-colored base were completely invisible in the natural light and white light, while they were visualized at wavelength range 300-415 nm through yellow goggles, and at wavelength range 300-455 nm through orange goggles at saliva dilution 1: 600. Complete typeability of AmpFISTR SGM Plus kit loci was obtained from saliva stains at dilution 1:1750. Partial AmpFISTR SGM Plus kit profiles were typed from saliva stains at dilution 1:2000. The wavelength of 455 nm and orange goggles were the optimal set for visualization of bloodstains on various, noncontrasting materials. Other useful wavelength/combinations of goggles were CSS light/red goggles. In case of saliva, the most useful general condition for visualization of stains on various, non-contrasting materials was with the wavelength set to 300-415 nm, while wearing yellow goggles. Other useful combinations of wavelength/goggles were 300-455 nm/orange or red goggles, and also CSS light/orange or red goggles.


Asunto(s)
Manchas de Sangre , Fluorescencia , Patologia Forense/instrumentación , Luz , Saliva/química , Medicina Legal/instrumentación , Humanos , Polonia , Sensibilidad y Especificidad , Propiedades de Superficie
17.
Folia Histochem Cytobiol ; 47(1): 105-10, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19419947

RESUMEN

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.


Asunto(s)
Genoma Humano/genética , Pérdida de Heterocigocidad/genética , Antropología Forense , Marcadores Genéticos , Humanos , Repeticiones de Microsatélite/genética
18.
Arch Med Sadowej Kryminol ; 59(3): 199-202, 2009.
Artículo en Polaco | MEDLINE | ID: mdl-20441080

RESUMEN

Population genetic data for 11 STRs included in the Humantype Chimera kit were obtained by multiplex PCR and subsequent automated fluorescent detection (ABI 310) from a sample of 125 unrelated individuals of ethnic minority of Polish Tatars residing in Podlasie Region (NE Poland). The genotype distributions conformed to HWE for all the analyzed loci except D2S1360 and D21S2055. The highly polymorphic systems exhibit high informativeness and are a potential extension to CODIS loci.


Asunto(s)
Pueblo Asiatico/genética , Dermatoglifia del ADN/métodos , Polimorfismo Genético , Secuencias Repetidas en Tándem , Adulto , Femenino , Medicina Legal/métodos , Frecuencia de los Genes , Genética de Población , Humanos , Masculino , Persona de Mediana Edad , Polonia , Reacción en Cadena de la Polimerasa/métodos
19.
Arch Med Sadowej Kryminol ; 59(3): 248-51, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-20441088

RESUMEN

The paper presents a personal identification case of an unrecognized corpse, presumably belonging to a male missing for four years. The cadaver was buried in a ground ditch and covered with slaked lime and soil. During the investigation the burial place was indicated. The corpse was exhumed and afterwards transferred to the Department of Forensic Medicine, Medical University of Bialystok. External examination and autopsy findings demonstrated adipocere formation and putrefaction, as well as two gunshot wounds in the thorax and the head assumed to be the cause of death. Personal identification procedure included skeletal and dental examination. As a source material for genetic typing, the femur, brain, lung, kidney and spleen samples were collected. DNA templates were extracted by a modified organic procedure and genotyped with the use of AmpFISTR Identifiler Amplification Kit and PowerPlex Y System in an ABI 310 Genetic Analyzer (Applied Biosystems). All the soft tissue samples yielded sufficient quantity and quality of DNA to perform genetic profiling.


Asunto(s)
Víctimas de Crimen , Dermatoglifia del ADN/métodos , Cambios Post Mortem , Heridas por Arma de Fuego/patología , Adulto , Autopsia , Cadáver , Medicina Legal/métodos , Humanos , Masculino , Polonia
20.
Arch Med Sadowej Kryminol ; 58(1): 17-21, 2008.
Artículo en Polaco | MEDLINE | ID: mdl-18767497

RESUMEN

The objective of the investigation was the calculation of biostatistical indices and parameters of medicolegal usefulness and extension of the knowledge on the genetic structure of the population in view of its historical background and ethnic composition. Polymorphism of Y-STR loci was determined in population samples including the total of 718 males of Polish nationality and belonging to the minorities of Byelorussians, Lithuanians, Polish Tatars and the religious minority of the Old Believers. Statistical analysis of genetic polymorphisms indicated their usefulness in characterizing populations and ethnic groups. The variations in haplotype distribution in northeastern Polish populations should be taken into consideration while evaluating probability of genetic profile matching in medicolegal expert opinions.


Asunto(s)
Cromosomas Humanos Y/genética , Dermatoglifia del ADN/métodos , Frecuencia de los Genes , Variación Genética , Repeticiones de Microsatélite , Población Blanca/genética , ADN/análisis , Genética de Población , Humanos , Masculino , Polonia , Reacción en Cadena de la Polimerasa/métodos
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