scholarly journals The Y chromosome and its use in forensic DNA analysis

2021 ◽  
Vol 5 (3) ◽  
pp. 427-441
Author(s):  
Denise Syndercombe Court
Keyword(s):  
Y Chromosome ◽  
Dna Analysis ◽  
Chromosome Analysis ◽  
Individual Identification ◽  
Forensic Dna ◽  
Forensic Dna Analysis ◽  
Supplementary Material ◽  
Male Specific ◽  
Short Tandem Repeat Markers ◽  
Short Tandem

Originally relatively ignored in forensic investigations because its genetic analysis lacks inference of individual identification, the value of Y chromosome analysis has been proven in cases of sexual assault, particularly where the amount of material left by a male assailant is limited in comparison with female DNA. All routine analysis of autosomal DNA, however, targets a gene (AMELY) on the Y chromosome in order to identify the sex of the DNA source and this is discussed in the context of the genetic structure of this male-specific chromosome. Short-tandem repeat markers on the chromosome are tested in dedicated multiplexes that have developed over time and these are described alongside international guidance as to their use in a forensic setting. As a marker of lineage, the Y chromosome provides additional tools to assist in the inference of ancestry, both geographical and familial and the value of Y chromosome testing is illustrated through descriptions of cases of criminal and historical interest. A decision to analyse the Y chromosome has to be considered in the context, not only of the circumstances of the case, but also with regard to the ethical questions it might raise, and these are discussed in relation to the cases that have been described in more detail in the accompanying online supplementary material.

scholarly journals Autosomal STR Profiling and Databanking in Malaysia: Current Status and Future Prospects

Genes ◽  
2020 ◽  
Vol 11 (10) ◽  
pp. 1112
Author(s):  
Hashom Mohd Hakim ◽  
Hussein Omar Khan ◽  
Japareng Lalung ◽  
Bryan Raveen Nelson ◽  
Geoffrey Keith Chambers ◽  
...  
Keyword(s):  
Tandem Repeats ◽  
Dna Analysis ◽  
Dna Profiling ◽  
Individual Identification ◽  
Current Status ◽  
Weight Of Evidence ◽  
Forensic Dna ◽  
Kinship Analysis ◽  
Forensic Dna Analysis ◽  
Dna Profiles

Science and technology are extensively used in criminal investigation. From the mid- to late-1980s, one of the scientific discoveries that has had a particularly remarkable impact on this field has been the use of highly variable DNA sequence regions (minisatellites) in the human genome for individual identification. The technique was initially referred to as DNA fingerprinting, but is now more widely referred to as DNA profiling. Since then, many new developments have occurred within this area of science. These include the introduction of new genetic markers (microsatellites also known as short tandem repeats/STRs), the use of the polymerase chain reaction for target amplification, the development of DNA databases (databanking), and the advancement and/or improvement of genotyping protocols and technologies. In 2019, we described the progress of DNA profiling and DNA databanking in Malaysia for the first time. This report included information on DNA analysis regulations and legislation, STR genotyping protocols, database management, and accreditation status. Here, we provide an update on the performance of our DNA databank (numbers of DNA profiles and hits) plus the technical issues associated with correctly assigning the weight of evidence for DNA profiles in an ethnically diverse population, and the potential application of rapid DNA testing in the country. A total of 116,534 DNA profiles were obtained and stored in the Forensic DNA Databank of Malaysia (FDDM) by 2019, having increased from 70,570 in 2017. The number of hits increased by more than three-fold in just two years, where 17 and 69 hits between the DNA profiles stored in the FDDM and those from crime scenes, suspects, detainees, drug users, convicts, missing persons, or volunteers were recorded in 2017 and 2019, respectively. Forensic DNA analysis and databanking are thus progressing well in Malaysia and have already contributed to many criminal investigations. However, several other issues are discussed here, including the need for STR population data for uncharacterized population groups, and pilot trials for adopting rapid DNA profiling technology. These aspects should be considered by policy makers and law enforcement agencies in order to increase the reliability and efficiency of DNA profiling in criminal cases and in kinship analysis in Malaysia.

scholarly journals Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

2011 ◽  
Vol 25 (6) ◽  
pp. 324-326 ◽  
Author(s):  
Caitlin J Symonette ◽  
Paul C Adams
Keyword(s):  
Mitochondrial Dna ◽  
Dna Analysis ◽  
Hereditary Hemochromatosis ◽  
Central Africa ◽  
Chromosome Analysis ◽  
Reference Sequence ◽  
Common Diagnosis ◽  
Ancestral Haplotypes ◽  
Short Tandem Repeat Markers ◽  
Short Tandem

BACKGROUND: Mitochondrial DNA (mtDNA) and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously. Primary iron overload is not a common diagnosis among indigenous people of northern Africa, but hereditary hemochromatosis is present in approximately one in 200 people in northern Europe. MtDNA analysis has the potential to determine whether contemporary hemochromatosis patients have an ancient ancestral linkage.METHODS: DNA was obtained from buccal smears for mtDNA and Y-DNA analysis. Y-DNA analysis included examination of 20 short tandem repeat markers on the Y chromosome. Analysis of mtDNA involved sequencing of theHVR-1genetic sequence (nucleotides 16001 to 16520) and was compared with the Cambridge Reference Sequence. MtDNA ancestral haplotypes were predicted from the analysis of the HVR-1 sequence.RESULTS: Twenty-six male C282Y homozygotes were studied. There were 28 polymorphisms present in the HVR-1 sequence of these participants. The most common polymorphism was present at position 16519 in 15 participants and at position 16311 in eight participants. There were 12 different ancestral haplotypes predicted by mtDNA analysis, with the K haplotype being present in five participants. Y-DNA analysis revealed eight different haplotypes, with R1b being found in 11 of the 26 participants.CONCLUSION: Analysis of mtDNA and Y-DNA in 26 hemochromatosis patients suggested that they did not all originate from the same ancestral tribe in Africa. These findings were consistent with the theory that the original hemochromatosis mutation occurred after migration of these ancestral people to central Europe, possibly 4000 years previously.

Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis

2015 ◽  
Vol 15 ◽  
pp. 98-104 ◽  
Author(s):  
Sergey Borovko ◽  
Alena Shyla ◽  
Victorya Korban ◽  
Alexandra Borovko
Keyword(s):  
Dna Analysis ◽  
Forensic Dna ◽  
Forensic Dna Analysis

scholarly journals Discovering a double murder through skeletal remains: A case report

2018 ◽  
Vol 59 (1) ◽  
pp. 9-16 ◽  
Author(s):  
Samuele Manzoni ◽  
Andrea Ossoli ◽  
Venusia Cortellini ◽  
Andrea Verzeletti
Keyword(s):  
Dna Analysis ◽  
Skeletal Remains ◽  
Post Mortem ◽  
Forensic Dna ◽  
Biological Profile ◽  
Life Imprisonment ◽  
Forensic Dna Analysis ◽  
Complex Process ◽  
Forensic Case ◽  
Two Bodies

Forensic examination of human remains is a complex process that relies on the contribution of multidisciplinary forensic medicine specialties. Here we present a complex forensic case regarding a double murder whose victims were found almost completely skeletonized. Post-mortem investigations allowed us to define the biological profile of the two bodies (ancestry, sex, age and stature), to discover their identity through forensic DNA analysis, and to detect peri-mortem injuries caused by firearms and stabbing weapons. Three men were recognized as involved in the crime and two of them were condemned to life imprisonment for homicide. The judges accepted the reconstruction of the crime promoted by the Prosecutor (double firearm murder).

scholarly journals Improved forensic DNA analysis through the use of alternative DNA polymerases and statistical modeling of DNA profiles

BioTechniques ◽  
2009 ◽  
Vol 47 (5) ◽  
pp. 951-958 ◽  
Author(s):  
Johannes Hedman ◽  
Anders Nordgaard ◽  
Birgitta Rasmusson ◽  
Ricky Ansell ◽  
Peter Rådström
Keyword(s):  
Statistical Modeling ◽  
Dna Analysis ◽  
Dna Polymerases ◽  
Forensic Dna ◽  
Forensic Dna Analysis ◽  
Dna Profiles

scholarly journals DN Testing as a Branch of Forensic Technology: Problems of Formation and Directions of Development

2020 ◽  
Vol 77 (2) ◽  
pp. 93-99
Author(s):  
Р. Л. Степанюк ◽  
С. І. Перлін
Keyword(s):  
Dna Analysis ◽  
Effective Means ◽  
Scientific Basis ◽  
Forensic Identification ◽  
Practical Significance ◽  
Forensic Dna ◽  
Forensic Dna Analysis ◽  
Genetic Characteristics ◽  
Legislative Regulation ◽  
Living Organisms

The authors of the article have studied the problems and perspectives of the formation of specific branch of forensic technology, which is devoted to DNA analysis in order to solve the tasks arising in criminal proceeding. Particular attention has been paid to the lack of a corresponding component in the domestic system of forensic technology, unlike the forensic science of foreign countries. The necessity of development of forensic DNA analysis as an independent branch of forensic technology has been argued. It is confirmed by the following main arguments: the methodology of this field of research is based on the theory of forensic identification; its objects are traces of human and other living organisms; DNA analysis technologies are developed using the achievements of different sciences and adapted to solve problems of crime detection and investigation; they are aimed to ensuring the activities of law enforcement agencies in counteracting crime; the scope of DNA analysis application in crime combating should not be limited to forensic activities; legislative regulation of collecting and using personal genetic data is essential; DNA analysis technologies in terms of practical significance and fundamental scientific basis exceed all other branches of forensic technology. The authors have offered to define forensic DNA analysis as the branch of forensic technology that studies individual genetic characteristics of living organisms contained in their DNA, in order to identify them and solve diagnostic tasks in the detection and investigation of criminal offenses. Its structure has been determined. The authors have provided perspective development directions of forensic DNA analysis: ensuring the appropriate state of legislative regulation of relations in the field of selection and use of personal genetic information; implementation of effective means and methods of detection and removal of biological traces and samples; improvement of methods of forensic DNA testing; formation of recommendations concerning the peculiarities of using DNA analysis results for proving; development of the latest technologies of forensic DNA analysis.

scholarly journals Microfluidic Devices for Forensic DNA Analysis: A Review

Biosensors ◽  
2016 ◽  
Vol 6 (3) ◽  
pp. 41 ◽  
Author(s):  
Brigitte Bruijns ◽  
Arian van Asten ◽  
Roald Tiggelaar ◽  
Han Gardeniers
Keyword(s):  
Dna Analysis ◽  
Microfluidic Devices ◽  
Forensic Dna ◽  
Forensic Dna Analysis
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