scholarly journals Dekonvolution von Mischspuren nach vollständig kontinuierlichem Modell

Rechtsmedizin ◽  
2021 ◽  
Author(s):  
Beate Dika ◽  
Jan Dreßler ◽  
Jeanett Edelmann ◽  
Michael Kohl
Keyword(s):  
Str Profile

Zusammenfassung Hintergrund Bei der Untersuchung von Mischspuren können stochastische Effekte die Beurteilung einer Spurenlegerschaft beeinträchtigen. Daher finden immer mehr softwarebasierte Lösungen Einzug in die Spurenuntersuchung, die durch Berücksichtigung biologischer Parameter eine Hilfestellung bei der Ableitung von Einzelprofilen bieten sollen. Im Rahmen der Studie wurde eine wissenschaftliche Validierung der Mischspurenanalyse-Software Genoproof® Mixture 4 (GPM4, Qualitype GmbH, Dresden, Deutschland) durchgeführt. Material und Methoden Die in unterschiedlichen Mischungsverhältnissen vorliegenden 2‑ und 3‑Personen-Mischspuren wurden künstlich unter Verwendung isolierter CD4+-Lymphozyten von 9 Spendenden erzeugt. Nach Erstellung der STR-Profile wurden die Mischspuren mittels GPM4 im Hinblick auf die Dekonvolution ausgewertet. Ergebnisse In den 2‑Personen-Mischspuren mit klarer Unterscheidung von Haupt- und Nebenkomponente wurde von der Software in der Großzahl der untersuchten STR-Systeme die richtige Genotypkonstellation (GTK) der Komponenten abgeleitet, oftmals mit einer Wichtung > 90 %. In den anteilsähnlicheren Mischspuren wurden zunehmend nichtzutreffende Allelableitungen beobachtet. Eine Abnahme der Performance in Bezug auf die Ableitung der richtigen GTK zeigten die 3‑Personen-Mischspuren. Faktoren wie Mischkomposition und Homo- und Heterozygotie in den genetischen Profilen hatten nachweislich einen Einfluss auf die Auftrennung der Mischspuren. Diskussion Mischspuren, die keine klare Unterscheidung von Haupt- und Nebenkomponente erlauben, stellen eine Schwierigkeit bei der Dekonvolution dar. In diesen Fällen ist eine Differenzierung der Peakhöhen detektierter Allele nur schwer möglich, da diese bei Anteilsgleichheit beider Komponenten eine komparable Intensität aufweisen. Ein deutlicher DNA-Mengen-Unterschied der Komponenten ist für die Berechnung von Vorteil.

scholarly journals Progression and Differentiation of Alveolar Rhabdomyosarcoma Is Regulated by PAX7 Transcription Factor—Significance of Tumor Subclones

Cells ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 1870
Author(s):  
Klaudia Skrzypek ◽  
Grażyna Adamek ◽  
Marta Kot ◽  
Bogna Badyra ◽  
Marcin Majka
Keyword(s):  
Transcription Factor ◽  
Cell Lines ◽  
Migration Activity ◽  
Id Proteins ◽  
Rh30 Cell ◽  
Str Profile ◽  
And Migration

Rhabdomyosarcoma (RMS), is the most frequent soft tissue tumor in children that originates from disturbances in differentiation process. Mechanisms leading to the development of RMS are still poorly understood. Therefore, by analysis of two RMS RH30 cell line subclones, one subclone PAX7 negative, while the second one PAX7 positive, and comparison with other RMS cell lines we aimed at identifying new mechanisms crucial for RMS progression. RH30 subclones were characterized by the same STR profile, but different morphology, rate of proliferation, migration activity and chemotactic abilities in vitro, as well as differences in tumor morphology and growth in vivo. Our analysis indicated a different level of expression of adhesion molecules (e.g., from VLA and ICAM families), myogenic microRNAs, such as miR-206 and transcription factors, such as MYOD, MYOG, SIX1, and ID. Silencing of PAX7 transcription factor with siRNA confirmed the crucial role of PAX7 transcription factor in proliferation, differentiation and migration of RMS cells. To conclude, our results suggest that tumor cell lines with the same STR profile can produce subclones that differ in many features and indicate crucial roles of PAX7 and ID proteins in the development of RMS.

Generating STR profile from “Touch DNA”

2011 ◽  
Vol 18 (7) ◽  
pp. 295-298 ◽  
Author(s):  
Sangeeta Aditya ◽  
A.K. Sharma ◽  
C.N. Bhattacharyya ◽  
Keya Chaudhuri
Keyword(s):  
Touch Dna ◽  
Str Profile

Inferring ethnic origin by means of an STR profile

2001 ◽  
Vol 119 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Alex L Lowe ◽  
Andrew Urquhart ◽  
Lindsey A Foreman ◽  
Ian W Evett
Keyword(s):  
Ethnic Origin ◽  
Str Profile

Full STR Profile of a 67-Year-Old Bone Found in a Fresh Water Lake

2010 ◽  
Vol 56 ◽  
pp. S172-S175 ◽  
Author(s):  
Cornelius Courts ◽  
Burkhard Madea
Keyword(s):  
Fresh Water ◽  
Water Lake ◽  
Str Profile ◽  
Fresh Water Lake

scholarly journals Single Cell Analysis of Circulating Endothelial Cells in Allogeneic Hematopoietic Stem Cell Transplant; To Whom Do They Belong: Host or Donor?

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4885-4885
Author(s):  
Camillo Almici ◽  
Francesca Fontana ◽  
Giovanna Piovani ◽  
Piera Balzarini ◽  
Arabella Neva ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Stem Cell ◽  
Single Cell ◽  
Hematopoietic Stem Cell ◽  
Risk Score ◽  
Hematopoietic Stem Cell Transplant ◽  
Stem Cell Transplant ◽  
Cell Transplant ◽  
Hematopoietic Stem ◽  
Str Profile

Background. We recently reported that Circulating Endothelial Cell (CEC) count changes represent a promising marker to monitor endothelial damage in patients undergoing allogeneic hematopoietic stem cell transplant (allo-HSCT), potentially becoming a valuable tool in the diagnostic definition of GVHD. Besides confirming an increase of CEC counts at GVHD onset, we repeatedly documented at time of engraftment statistically significant higher numbers of CEC in patients who will not manifest GVHD in comparison to patients in which GVHD will be diagnosed (Transplantation 2014,98:706-12; Bone Marrow Transplantation 2017,52:1637-42; Scientific Reports 2019,9:1-12). Recent knowledges in organ transplant pointed out that endothelial cells from the grafted organ, besides being a continuous source of alloantigens, can downregulate alloreactivity exerting tolerogenic responses. By inference to the allo-HSCT field, it could be envisaged that presence of donor CEC could induce protective effects on alloreactivity. Methods. We planned a study to test the hypothesis that at time of engraftment, CEC present in peripheral blood (PB), besides coming from cells shedding from patient vasculature, could partly belong to donor, originating from the cellular graft. Therefore, in an exploratory set, we performed FISH analysis on flowcytometry-sorted CEC (CD45neg/CD34bright/CD146pos, Lyotube #623920, BD Biosciences) (n=3) and on whole PB derived culture-expanded CEC (n=3) (EGM-2 BulletKit, Lonza), obtained at engraftment in sex-mismatched allo-HSCT. In the confirmatory set (n=15), single CEC were recovered from PB, at engraftment (T1) and at 90 days (T2) after allo-HSCT, through the DEPArrayTM technology (Menarini Silicon Biosystems), after preliminary bulk separation step carried out with the CellSearch® System. Single recovered CEC was whole genome amplified (Ampli1™ WGA Kit) and short tandem repeat (STR) profile determined (Ampli 1TM STR kit) on each single CEC. To confirm host/donor origin, single CEC STR profile was compared to that determined on patient and donor cells before allo-HSCT. Moreover, donor CEC presence was evaluated by CISH analysis on formaline fixed and paraffin-embedded biopsy sections obtained at least three months after sex mismatched allo-HSCT. Results. By positive findings of the exploratory set, we proved, at the single cell level in the confirmatory set, the presence of donor CEC at engraftment (T1) in 4 out of 15 patients (Table 1). Of them, 2 did not manifested GVHD, despite a GVHD risk score of 2, and the other 2 presented GVHD grade I. On the contrary, among the 10 patients in whom no donor CEC were detected, 6 experienced GVHD grade II-III, while 4 did not manifested GVHD, despite a 1-3 GVHD risk score. Conclusions. Our data represent the proof of principle that donor CEC may flow in host PB early on from hematopoietic recovery and seldom persist thereafter at steady-state conditions, being potentially embedded in host vascular wall. These puzzling findings suggest that neovascularization takes place in parallel with hematopoietic engraftment and could provide further clues on shedding light on tissue tolerance in the context of GVHD, opening up paradoxical scenarios on the protective role potentially played by donor CEC. Disclosures Fontana: Menarini Silicon Biosystem: Employment. Rotta:BD Biosciences Italia: Employment. Manaresi:Menarini SIlicon Biosystem: Employment, Membership on an entity's Board of Directors or advisory committees.

Influence of the degree of homozygosity of STR-loci on the fertility of thoroughbred horses

2021 ◽  
pp. 22-27
Author(s):  
N. Blohina ◽  
A. Ustiantceva
Keyword(s):  
Experimental Sample ◽  
Horse Breed ◽  
Breeding Method ◽  
Safe Yield ◽  
Thoroughbred Horses ◽  
Average Analysis ◽  
Str Profile ◽  
Inbreeding Rate ◽  
The Russian Federation ◽  
Individual Fecundity

Purpose: to study the effect of the level of homozygosity and inbreeding on the fecundity of thoroughbred mares.Materials and methods. A total of 3662 heads of breeding sows from leading stud farms of the Russian Federation were selected for the analysis. The influence of the homozygosity level on 17 microsatellite DNA loci on the main indices of reproduction of thoroughbred mares, such as the safe yield of foals and the number of fetal years, was analyzed in the article. All mares in the experimental sample had at least three years of breeding use. Individual fecundity rates and the number of homozygous loci in the STR profile were calculated for each horse.Results. The highest live foal yields (75.92%) had sows with homozygosity levels of 62.78-69.02%, and the lowest foal yields (45.73%) were recorded in mares with the highest homozygosity levels (75.28-76.92%). The maximum foal yield (65.85%) was determined in sows with an inbreeding rate of 4.1% or more, with a productive longevity of 6.26 fetal years on average. Analysis of the data showed that the level of inbreeding had almost no effect on the yield of live foals (R=0.010 at P>0.05), but had a negative correlation with the number of fruiting years (R=-0.092 at P<0.005).Conclusion. Estimation of homozygosity level of thoroughbred horses is especially relevant, as this breed has been perfected by purebred breeding method only for more than thirty years. In the thoroughbred horse breed, it is necessary to create a system of maintaining heterozygosity as well as the diversity of genotypes through the organization of breeding work.

Genetic analysis of father-daughter incest using multifaceted STR markers and study of inheritance pattern of alleles

2021 ◽  
Vol 01 ◽  
Author(s):  
Hirak Ranjan Dash ◽  
Ila Gautam ◽  
Anil Kumar Singh ◽  
Pankaj Shrivastava
Keyword(s):  
Genetic Analysis ◽  
Sex Chromosomes ◽  
Indian Population ◽  
Inheritance Pattern ◽  
Male Fetus ◽  
Str Markers ◽  
Str Profile ◽  
Correct Pattern ◽  
Rare Report ◽  
Forensic Parameters

Background: Two cases involving father-daughter incest, a rare report in the Indian population, have been analyzed in the current study. STR markers on both autosomal and sex chromosomes were employed to expound the cases. Objective: To confirm the identity of the fetus as a product of father-daughter incest and to study the inheritance pattern of alleles in such cases. Results: In both cases, the aborted fetus was found to be the product of an incestuous father-daughter relationship. The probability of paternity as well as maternity was found to be >99.9999% in both cases. Analysis of other paternity and forensic parameters also substantiated the inclusion of the alleged individuals. Father-daughter incest had a tremendous effect on the genome as evidenced from the dramatical decrease in unrelated alleles between father/child [16.66% (Case 1), 20% (Case 2)] and mother/child [26.66% (Case 1), 21.66% (Case 2)]. Genetic evidence also suggested an increased biallelic match i.e., 26.66% (Case 1) and 33.33% (Case 2) between mother and fetus which are at par/ above the normal siblings’ values i.e., 26.66%. Conclusion: A significant increase in the percentage of homozygous alleles (53.33% in both cases) was observed in the product of father-daughter incest. Both daughters share the same X chromosome from the father, which also suggested the case to be of father-daughter incest. Similarly, the same Y-STR profile between the male fetus and alleged father confirmed the correct pattern of inherit1ance of the Y chromosome in this case.

Corrigendum to “Generating STR profile from “Touch DNA”” [J Forensic Legal Med 18 (2011) 295–298]

2012 ◽  
Vol 19 (6) ◽  
pp. 365
Author(s):  
Sangeeta Aditya ◽  
C.N. Bhattacharyya ◽  
Keya Chaudhuri
Keyword(s):  
Touch Dna ◽  
Str Profile
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