Identification of a discordant genotype at the D2S1338 locus between Identifiler Plus®16 kit and Power Plex®21 system kit

2016 ◽  
Vol 44 ◽  
pp. 174-177 ◽  
Author(s):  
Lin Zhang ◽  
Hongyan Wu ◽  
Kejie Wang ◽  
Aiying Fan ◽  
Jiafeng Niu ◽  
...  
2018 ◽  
Vol 2 (2) ◽  
pp. 35
Author(s):  
Paula Romanos ◽  
Jamilah Borjac

Despite the high power of discrimination that characterizes the well identified 16 to 24 autosomal short tandem repeat markers, monozygotic twins differentiation is generally limited. Arising from a single fertilized egg, monozygotic twins share the same genotype therefore the same DNA profile. This situation imposes a challenge in forensics especially considering that lineage markers are in general less informative than autosomal ones. Although in some cases Y haplotype is considered a powerful investigative tool, it cannot distinguish males belonging to the same paternal lineage.  The use of rapidly mutating Y-STRs with mutation rate above 1x10-2 that were recently included in forensic casework is presumed helpful. Since science is always dynamic and each population has its own characteristics, we aim in this study to distinguish between Lebanese monozygotic male twins using rapidly mutating Y-STRs. For this purpose, fourteen unrelated pairs of male monozygotic twins were recruited. Participants filled in a well-designed questionnaire and signed an informed consent. DNA was extracted using PureLink Genomic DNA Mini kit, genotyped using the Identifiler Plus kit, and separated on 3500 Genetic Analyzer to confirm the monozygosity status. DNA samples underwent a second amplification using the Y Filer Plus kit. According to our results, all the Y Filer Plus DNA profiles showed complete match for each twin pair. By consequence, the use of rapidly mutating Y-STRs in this study did not improve discrimination.


Cell Cycle ◽  
2005 ◽  
Vol 4 (8) ◽  
pp. 997-998 ◽  
Author(s):  
Monique L. den Boer ◽  
William E. Evans ◽  
Rob Pieters
Keyword(s):  

2020 ◽  
Vol 21 (17) ◽  
pp. 1217-1226
Author(s):  
Albain Chansavang ◽  
Sadok Maalej ◽  
Céline Narjoz ◽  
Marie-Anne Loriot ◽  
Nicolas Pallet

Aim: To assess rare TPMT variants in patients carrying a deficient phenotype not predicted by the four more frequent genotypes (*2, *3A, *3B and *3C). Materials & methods: Next-generation sequencing of TPMT in 39 patients with a discordant genotype. Results: None of the variants identified explained the discordances assuming that they are of uncertain significance according to the Clinical Pharmacogenetics Implementation Consortium classification. Two unknown variants were detected and predicted to result in a splicing defect. We show that TPMT*16 and TMPT*21 are defective alleles, and TPMT*8 and TPMT*24 are associated with a normal activity. Conclusion: Whole-exon sequencing for rare  TPMT mutations has a low diagnostic yield. A reassessment of the functional impact of rare variants of uncertain significance is a critical issue.


2018 ◽  
Vol 5 (1) ◽  
Author(s):  
Husen Sofie C ◽  
Knapen Maarten FCM ◽  
Vries Femke AT de ◽  
Verdijk Robert M ◽  
Govaerts Lutgarde CP

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Diego Lozano-Peral ◽  
Leticia Rubio ◽  
Ignacio Santos ◽  
María Jesús Gaitán ◽  
Enrique Viguera ◽  
...  

AbstractHuman identification from burned remains poses a challenge to forensic laboratories, and DNA profiling is widely used for this purpose. Our aim was to evaluate the effect of temperature on DNA degradation in human teeth. Thirty teeth were exposed to temperatures of 100, 200, or 400 °C for 60 min. DNA was quantified by Real-Time qPCR (Quantifiler Human DNA Quantification Kit) and fluorescence spectroscopy (Qubit 3.0 Fluorometer). DNA degradation was evaluated by using STR markers (AmpFLSTR Identifiler Plus PCR Amplification Kit) to determine the allele and locus dropout, inter-locus balance, and degradation slope (observed (Oa) to expected (Ea) locus peak height ratio against the molecular weight). Most of the genomic DNA was degraded between 100 °C and 200 °C. At 100 °C, locus dropout ratios showed significant differences between the largest loci (FGA, D7S820, D18S51, D16S539, D2S1338 and CSF1PO) and amelogenin. Inter-locus balance values significantly differed between all dye channels except between NED and PET. The dropout ratio between D18S51 (NED) and amelogenin (PET) can be recommended for the evaluation of DNA degradation. The Oa/Ea regression model can predict locus peak heights in DNA degradation (R2 = 0.7881). These findings may be useful to assess the reliability of DNA typing for human identification in teeth subjected to prolonged incineration.


Author(s):  
Nerea Matamala ◽  
Beatriz Lara ◽  
Raquel Sáez ◽  
Silvia Castillo ◽  
María Molina ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Aqsa Rubab ◽  
Muhammad Shafique ◽  
Faqeeha Javed ◽  
Samia Saleem ◽  
Fatima Tuz Zahra ◽  
...  

Abstract Phylogenetic relationship and the population structure of 500 individuals from the Christian community of Lahore, Pakistan, were examined based on 15 autosomal short tandem repeats (STRs) using the AmpFℓSTR Identifiler Plus PCR Amplification Kit and our previously published Y-filer kit data (17 Y-STRs) of same samples. A total of 147 alleles were observed in 15 loci and allele 11 at the TPOX locus was the most frequent with frequency value (0.464). The data revealed that the Christian population has unique genetic characteristics with respect to a few unusual alleles and their frequencies relative to the other Pakistani population. Significant deviations from Hardy–Weinberg equilibrium were found at two loci (D13S317, D18S51) after Boneferroni’s correction (p ≤ 0.003). The combined power of discrimination, combined power of exclusion and cumulative probability of matching were 0.999999999999999978430815060354, 0.999995039393942 and 2.15692 × 10−17, respectively. On the bases of genetic distances, PCA, phylogenetic and structure analysis Lahore-Christians appeared genetically more associated to south Asian particularly Indian populations like Tamil, Karnataka, Kerala and Andhra Pradesh than rest of global populations.


2018 ◽  
Vol 142 (11) ◽  
pp. 1407-1414
Author(s):  
Douglas J. Demetrick

Context.— Specimen misidentification is the most significant error in laboratory medicine, potentially accounting for hundreds of millions of dollars in extra health care expenses and significant morbidity in patient populations in the United States alone. New technology allows the unequivocal documentation of specimen misidentification or contamination; however, the value of this technology currently depends on suspicion of the specimen integrity by a pathologist or other health care worker. Objective.— To test the hypothesis that there is a detectable incidence of unsuspected tissue specimen misidentification among cases submitted for routine surgical pathology examination. Design.— To test this hypothesis, we selected specimen pairs that were obtained at different times and/or different hospitals from the same patient, and compared their genotypes using standardized microsatellite markers used commonly for forensic human DNA comparison in order to identify unsuspected mismatches between the specimen pairs as a trial of “molecular auditing.” We preferentially selected gastrointestinal, prostate, and skin biopsies because we estimated that these types of specimens had the greatest potential for misidentification. Results.— Of 972 specimen pairs, 1 showed an unexpected discordant genotype profile, indicating that 1 of the 2 specimens was misidentified. To date, we are unable to identify the etiology of the discordance. Conclusions.— These results demonstrate that, indeed, there is a low level of unsuspected tissue specimen misidentification, even in an environment with careful adherence to stringent quality assurance practices. This study demonstrates that molecular auditing of random, routine biopsy specimens can identify occult misidentified specimens, and may function as a useful quality indicator.


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