scholarly journals A Unique Allele Variant at STR Locus D2S1338 in a Paternity Testing Case

2021 ◽  
Vol 3 (1) ◽  
pp. 109-117
Author(s):  
Sajjad Ahmad ◽  
Sadaqat ALi ◽  
Nasir Siddique ◽  
Qazi Laeeque Ahmad ◽  
Muhammad Amjad ◽  
...  
Keyword(s):  
Allelic Variation ◽  
Rare Allele ◽  
Dna Profiling ◽  
Paternity Testing ◽  
Null Alleles ◽  
Allelic Ladder ◽  
Unique Allele ◽  
Dna Database ◽  
Allele Variant ◽  
Testing Case

Background: The relationship testing through DNA profiling may undesirably be affected by the rare allele variants, tri-allelic pattern and null alleles. Therefore, it is vital to report such anomalies. We report a paternity testing in a sexual assault case studied at Punjab Forensic Science Agency, Lahore Pakistan showing a unique allele variant in mother and child. Methods: DNA was extracted from the buccal swabs of reference samples using organic extraction method and DNA profiling was done for 15 autosomal STRs and amelogenin using Identifiler Plus kit. Results: A novel out of marker range (OMR) allele variant between STR Loci D16S539 and D2S1338 was observed in the DNA profiles of victim (mother) as well as the child. At STR locus D2S1338 Twenty one different allele variant are listed at STRBase ranging from 11 to 28. The allele variant observed in this case study was appeared at less than marker range (< D2S1338) with a size of 297.50 bp. The novel variant OMR allele at D2S1338 was labeled as allele 13, when compared to the other allele in allelic ladder. Moreover, the PFSA DNA database was searched for this unique allelic variation and it was found that this was present in only two other samples of distinct cases. Conclusion: The overall frequency of this unique allele variant was 3 in 10,125 unrelated individuals with frequency of occurrence of 0.0296. According to our limited knowledge it is the first report of a novel OMR allele variant at D2S1338 in Pakistani Population.

scholarly journals Assessment of QIAGEN™ Investigator® 24plex GO! kit workflow for autosomal STR profiling of forensic reference samples

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hashom Mohd Hakim ◽  
Hussein Omar Khan ◽  
Siti Afifah Ismail ◽  
Nurul Hazirah Mat Lazim ◽  
Japareng Lalung ◽  
...  
Keyword(s):  
Pcr Amplification ◽  
Dna Profiling ◽  
Buccal Swab ◽  
Forensic Dna ◽  
Str Typing ◽  
Str Analysis ◽  
Dna Database ◽  
Autosomal Str ◽  
Dna Template ◽  
Reference Samples

Abstract Background DNA profiling has proven to be a valuable technique for identification of individuals in crime. Currently, the technique targets several short tandem repeat (STR) regions in human genome. However, increasing number of samples submitted for STR analysis may lead to delays due to the limited number of experienced analysts who might be available at any given moment and the time taken to complete lengthy DNA profiling procedures. This study was conducted to test the specificity, repeatability, reproducibility and robustness of Investigator® 24plex GO! kit for genotyping of reference samples submitted to the Royal Malaysian Police Forensic DNA Laboratory for DNA database. Material and methods In this study, Investigator® 24plex GO! kit was used to directly amplify STR loci from buccal swab cell of reference samples that had previously been STR typed using GlobalFiler™ Express kit. Capillary electrophoresis was carried out on a 3500xL Genetic Analyser using POP-4® Polymer. Amplified products were assigned to particular STR alleles using the GeneMapper ID-X version 1.4 software. Results Our study shows that STR profiles generated using Investigator® 24plex GO! gave concordance results with those previously obtained using the GlobalFiler™ Express kit. In addition, quality sensors included in the kit are of particular importance for determining the effectiveness of the PCR reaction and help to indicate the nature and quantity of DNA template for PCR amplification. Conclusion The Investigator® 24plex GO! kit is reliable for STR typing of reference samples.

scholarly journals Interpretation of DNA data within the context of UK forensic science — evaluation

2021 ◽  
Author(s):  
Roberto Puch-Solis ◽  
Susan Pope
Keyword(s):  
State Of The Art ◽  
Crime Scene ◽  
Database Search ◽  
Dna Profiling ◽  
Forensic Dna ◽  
Criminal Trials ◽  
Kinship Analysis ◽  
Dna Database ◽  
Forensic Dna Profiling ◽  
The Uk

Forensic DNA provides a striking contribution to the provision of justice worldwide. It has proven to be crucial in the investigative phase of an unsolved crime where a suspect needs to be identified, e.g. from a DNA database search both nationally and internationally. It is also a powerful tool in the assignment of evidential weight to the comparison of a profile of a person of interest and a crime scene profile. The focus of this document is the evaluation of autosomal profiles for criminal trials in the UK. A separate review covers investigation and evaluation of Y-STR profiles, investigation using autosomal profiles, kinship analysis, body identification and Forensic Genetic Genealogy investigations. In less than 40 years, forensic DNA profiling has developed from a specialist technique to everyday use. Borrowing on advances in genome typing technology, forensic DNA profiling has experienced a substantial increase in its sensitivity and informativeness. Alongside this development, novel interpretation methodologies have also been introduced. This document describes the state of the art and future advances in the interpretation of forensic DNA data.

DNA-Profiling with pHINS310, pMUC7, pMR24/1, pYNH24 and pMS43a for Paternity Testing

1992 ◽  
pp. 204-206
Author(s):  
T. Rothämel ◽  
H.-J. Krüger ◽  
W. Keil ◽  
H. D. Tröger
Keyword(s):  
Dna Profiling ◽  
Paternity Testing

Genetic diversity of the azuki bean (Vigna angularis (Willd.) Ohwi & Ohashi) gene pool as assessed by SSR markers

Genome ◽  
2008 ◽  
Vol 51 (9) ◽  
pp. 728-738 ◽  
Author(s):  
H. X. Xu ◽  
T. Jing ◽  
N. Tomooka ◽  
A. Kaga ◽  
T. Isemura ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Allelic Variation ◽  
Gene Diversity ◽  
Azuki Bean ◽  
Himalayan Region ◽  
Null Alleles ◽  
Wild Germplasm ◽  
Ssr Analysis ◽  
River Region ◽  
Northeast Asian

To facilitate the wider use of genetic resources including newly collected cultivated and wild azuki bean germplasm, the genetic diversity of the azuki bean complex, based on 13 simple sequence repeat (SSR) primers, was evaluated and a core collection was developed using 616 accessions originating from 8 Asian countries. Wild germplasm from Japan was highly diverse and represented much of the allelic variation found in cultivated germplasm. The SSR results together with recent archaeobotanical evidence support the view that Japan is one center of domestication of azuki bean, at least for the northeast Asian azuki bean. Cultivated azuki beans from China, Korea, and Japan were the most diverse and were genetically distinct from each other, suggesting a long and relatively isolated history of cultivation in each country. Cultivated azuki beans from eastern Nepal and Bhutan were similar to each other and quite distinct from others. For two primers, most eastern Nepalese and Bhutanese cultivated accessions had null alleles. In addition, wild accessions from the Yangtze River region of China and the Himalayan region had a null allele for one or the other of these primers. Whether the distinct diversity of azuki bean in the Himalayan region is due to introgression or separate domestication events requires further study. In contrast, western Nepalese azuki beans showed an SSR profile similar to that of Chinese azuki beans. The genetic distinctness of cultivated azuki beans from Vietnam has been revealed for the first time. The specific alleles indicate that Vietnamese azuki beans have been cultivated in isolation from Chinese azuki beans for a long time. Wild germplasm from the Himalayan region showed the highest level of variation. Based on the results, Himalayan germplasm could be considered a novel gene source for azuki bean breeding. A comparison with mungbean SSR analysis revealed that the mean gene diversity of cultivated azuki bean (0.74) was much higher than that of cultivated mungbean (0.41). The reduction in gene diversity due to domestication, the domestication bottleneck, in azuki bean is not strong compared with that in mungbean.

Allelic ladder production for a 10 locus Y‐chromosome DNA profiling system

2020 ◽  
Vol 3 (6) ◽  
pp. 246-254
Author(s):  
Mohaimin Kasu ◽  
Mischa Fraser ◽  
Mpasi Lesaoana ◽  
Maria Eugenia D'Amato
Keyword(s):  
Y Chromosome ◽  
Dna Profiling ◽  
Allelic Ladder

Application of DNA Profiling to Paternity Testing during Early Pregnancy

1993 ◽  
Vol 43 (6) ◽  
pp. 357-361 ◽  
Author(s):  
Liu Mingjun ◽  
Xin Zhenghan ◽  
Ivan Balazsc
Keyword(s):  
Early Pregnancy ◽  
Dna Profiling ◽  
Paternity Testing

scholarly journals Complex modifier landscape underlying genetic background effects

2019 ◽  
Vol 116 (11) ◽  
pp. 5045-5054 ◽  
Author(s):  
Jing Hou ◽  
Guihong Tan ◽  
Gerald R. Fink ◽  
Brenda J. Andrews ◽  
Charles Boone
Keyword(s):  
Genetic Background ◽  
Rare Variants ◽  
Allelic Variation ◽  
Rare Allele ◽  
Loss Of Function ◽  
Gene Essentiality ◽  
Yeast Genes ◽  
Genetic Background Effects ◽  
Genomic Regions

The phenotypic consequence of a given mutation can be influenced by the genetic background. For example, conditional gene essentiality occurs when the loss of function of a gene causes lethality in one genetic background but not another. Between two individual Saccharomyces cerevisiae strains, S288c and Σ1278b, ∼1% of yeast genes were previously identified as “conditional essential.” Here, in addition to confirming that some conditional essential genes are modified by a nonchromosomal element, we show that most cases involve a complex set of genomic modifiers. From tetrad analysis of S288C/Σ1278b hybrid strains and whole-genome sequencing of viable hybrid spore progeny, we identified complex sets of multiple genomic regions underlying conditional essentiality. For a smaller subset of genes, including CYS3 and CYS4, each of which encodes components of the cysteine biosynthesis pathway, we observed a segregation pattern consistent with a single modifier associated with conditional essentiality. In natural yeast isolates, we found that the CYS3/CYS4 conditional essentiality can be caused by variation in two independent modifiers, MET1 and OPT1, each with roles associated with cellular cysteine physiology. Interestingly, the OPT1 allelic variation appears to have arisen independently from separate lineages, with rare allele frequencies below 0.5%. Thus, while conditional gene essentiality is usually driven by genetic interactions associated with complex modifier architectures, our analysis also highlights the role of functionally related, genetically independent, and rare variants.

scholarly journals DNA Profiling and the Law in South Africa

2017 ◽  
Vol 14 (4) ◽  
pp. 170
Author(s):  
S De Wet ◽  
J Visser
Keyword(s):  
South African ◽  
Scientific Basis ◽  
Dna Profiling ◽  
Criminal Proceedings ◽  
Criminal Trials ◽  
Dna Evidence ◽  
South African Police Service ◽  
Dna Database ◽  
Dna Collection ◽  
South African Police

DNA evidence is currently at the forefront of the arsenal of evidence employed in criminal trials. To ensure its optimum use in criminal proceedings, it is imperative that the legal fraternity is properly conversant with the scientific basis and presentation of such evidence, as well as with its potential pitfalls. In an effort to provide the legal profession with a background to this complex and useful type of evidence, this article looks at the biochemical nature of DNA, at DNA profiling and its use in criminal trials, and at the processes of DNA collection and analysis in the Biology Unit of the Forensic Science Laboratory of the South African Police Service. The presentation of DNA evidence in court is then evaluated and the future of DNA evidence, including legislative reform, and the creation of a DNA database are discussed.

Setting the Scene

2018 ◽  
Author(s):  
Cheryl Allsop
Keyword(s):  
Biological Material ◽  
Dna Profiling ◽  
Case Review ◽  
Dna Database ◽  
Key Concepts ◽  
Profiling Techniques ◽  
The Subject ◽  
Cold Case

This chapter introduces the reader to cold case investigations and sets out the key concepts that will be explored in the book, including an explanation of what constitutes a cold case and a cold case review. It outlines the crimes most likely to be the subject of a cold case review, namely murder and ‘stranger rape’. There is also a brief introduction to the role of DNA in these reviews, as advanced DNA profiling techniques and methods of amplifying minute amounts of biological material have led to the opening of new lines of enquiry in cold cases. The introduction of the National DNA Database (NDNAD) has also been instrumental to the success of cold case reviews, especially in sexually motivated offences.

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