DNA Profiling in Human Identification: From Past to Present

| Posted in: Science

Journal name: The Malaysian Journal of Medical Sciences
Original article title: DNA Profiling in Human Identification: From Past to Present
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Author:

Sundararajulu Panneerchelvam, Mohd Nor Norazmi


The Malaysian Journal of Medical Sciences:

(A peer-reviewed, open-access journal)

Full text available for: DNA Profiling in Human Identification: From Past to Present

Year: 2023 | Doi: 10.21315/mjms2023.30.6.2

Copyright (license): CC BY 4.0


Download the PDF file of the original publication


Summary of article contents:

Introduction

Forensic DNA typing has become a cornerstone in criminal investigations and legal proceedings worldwide due to its ability to accurately identify individuals through their unique genetic profiles. DNA evidence is not only instrumental in linking suspects to crime scenes but also plays a significant role in exonerating innocent individuals. The evolution of DNA profiling techniques has been marked by technological advancements, such as the introduction of validated kits and enhanced statistical methods, which have improved the precision and reliability of forensic investigations. This document reviews the various types of DNA polymorphisms and their applications in human identity testing.

The Importance of DNA Polymorphism

DNA polymorphism refers to variations in the DNA sequence among individuals, which can be utilized for identification purposes. Before the advent of DNA typing, forensic identification relied heavily on blood groups and protein markers, which were often compromised by environmental factors. However, DNA polymorphisms, including single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs), offer a more robust mechanism for human identification. STRs, in particular, are widely used in forensic science because of their high mutation rates and the ability to differentiate between individuals. The combination of different markers enhances the accuracy of DNA profiling, making it an essential tool in criminal investigations, paternity testing, and identifying human remains.

Conclusion

The ongoing advancements in DNA profiling techniques, particularly the reliance on autosomal STR analysis, have solidified its role as a reliable method for human identification. With continued research and innovation, forensic DNA analysis is anticipated to evolve further, potentially leading to portable technologies capable of on-site testing. The robustness and reproducibility of DNA profiling, coupled with a comprehensive understanding of genetic markers, reinforce its significance in achieving justice and supporting effective law enforcement.

FAQ section (important questions/answers):

What is forensic DNA typing and its significance in court?

Forensic DNA typing is a scientific method used to identify individuals based on their unique genetic makeup. It is accepted globally in courts, helping to both identify victims and exonerate innocent suspects.

What are the advancements in DNA profiling technology?

Technological advancements include validated kits for Combined DNA Index System (CODIS) short tandem repeats (STRs), real-time polymerase chain reaction (PCR), and robust statistical methods, enhancing the precision of forensic investigations.

What are the types of DNA polymorphisms used in identification?

DNA polymorphisms include single nucleotide polymorphisms (SNPs), variable number tandem repeats (VNTRs), and mitochondrial DNA variations. These variations help in human identity testing and forensic applications.

How does the Polymerase Chain Reaction (PCR) work in DNA typing?

PCR amplifies a specific DNA segment from minimal starting material. It involves cycles of denaturation, annealing, and extension, allowing for the rapid production of large quantities required for analysis, vital in forensic investigations.

Glossary definitions and references:

Scientific and Ayurvedic Glossary list for “DNA Profiling in Human Identification: From Past to Present”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.

1) Table:
In scientific literature, a table organizes data for easy reference, allowing readers to quickly grasp numerical findings, relationships among variables, or comparisons between different groups. In forensic DNA studies, tables often summarize allele frequencies, profile comparisons, and case results, enhancing clarity and aiding in evidence presentation in legal contexts.

2) Mutation:
A mutation is a change in the DNA sequence that can occur due to errors in DNA replication or external factors like radiation and chemicals. Mutations are crucial for genetic diversity, but in forensics, identifying specific mutations helps differentiate individuals and establish genetic relationships, making it instrumental in DNA profiling.

3) Science (Scientific):
Scientific refers to methods or principles based on systematic study and empirical evidence. In the realm of forensic DNA analysis, scientific practices ensure rigorous testing and validation of techniques used to collect, analyze, and interpret DNA evidence to uphold its validity in legal settings.

4) Nature:
Nature, in this context, refers to the inherent qualities and characteristics of biological entities, such as DNA. Understanding the 'nature' of DNA, including its structure and function, is fundamental to forensic science as it dictates how genetic material is analyzed, interpreted, and utilized in criminal investigations and identity testing.

5) Male:
In genetic studies, 'male' refers to the sex that carries one X and one Y chromosome. Y chromosome analysis is often used in forensic investigations because it is passed from father to son without recombination, making it useful for tracing lineage and identifying male individuals in mixed DNA samples.

6) Blood:
Blood is a biological fluid containing cells, proteins, and genetic material. In forensic science, blood samples are often collected from crime scenes for DNA analysis. The ability to extract and analyze DNA from blood is pivotal for identifying victims, suspects, and establishing biological relationships in legal cases.

7) Relative:
A relative is a family member or someone related by blood. In forensic DNA testing, analyzing genetic markers allows scientists to determine relationships among relatives, such as paternity or kinship, which could be critical in cases involving inheritance, identity verification, and supporting familial connections in criminal investigations.

8) Calculation:
Calculation refers to the process of determining a numerical result using mathematical methods. In forensic science, accurate calculations of random match probabilities (RMP) and likelihood ratios (LR) are essential for interpreting DNA evidence, assessing the probability of an individual's DNA matching that found at a crime scene.

9) Performance:
Performance in this context relates to the effectiveness and efficiency of DNA typing techniques used in forensic investigations. It is evaluated by assessing the accuracy, sensitivity, and reproducibility of the methods employed, ensuring that the results obtained can be reliably used for legal purposes and crime resolution.

10) Observing:
Observing involves carefully watching or monitoring a process to collect data or gain insights. In forensic analysis, observing the behaviors of DNA samples during extraction, amplification, and profiling provides critical information about their integrity, potential contamination, and suitability for reliable identification and genetic relationship determinations.

11) Quality:
Quality in forensic DNA analysis pertains to the standards and criteria used to ensure accurate and reliable results. Implementing quality assurance measures in laboratory processes, from DNA extraction to interpretation, is critical to maintaining the credibility of forensic evidence presented in court, thus upholding justice.

12) Debate:
Debate refers to discussions or disputes on a particular issue. In the context of forensic science, there has been considerable debate regarding the interpretation of DNA evidence, the methodologies employed, and the ethical implications of its use in court, highlighting the importance of standards and regulations in this field.

13) Study (Studying):
A study is a systematic investigation into a specific area of interest to discover facts or principles. Forensic studies focus on improving DNA profiling methods and understanding genetic variations within populations, thereby enhancing the reliability and applicability of forensic evidence in solving crimes and identifying individuals.

14) Horn:
In this context, 'horn' can refer to a specific aspect within genetic studies or forensic cases. It may represent figurative metaphor used in scientific discussions or could denote a particular item discussed in the literature related to scientific methodologies in DNA extraction or analysis.

15) Coma:
In scientific terms, 'coma' may refer to an unconscious state due to a severe medical condition. However, in this forensic context, it possibly relates to documented cases where DNA evidence has played a role in establishing the identity of individuals in an investigation involving medical or criminal circumstances.

16) Family:
Family signifies a group of related individuals bound by blood or marriage. In forensic science, family relationships are often assessed through DNA profiling techniques to establish biological connections, resolve paternity disputes, or identify victims in mass casualty incidents, highlighting the role of genetics in familial connections.

17) Medium:
The term medium typically refers to a substance through which another substance is transmitted or held. In DNA analysis, the medium (such as agarose gel, capillary tubes, or other solutions) used in electrophoresis or PCR is crucial for effective separation and analysis of DNA fragments in forensic samples.

18) Hair:
Hair is a keratinous filament that grows from follicles found in the skin. It can serve as a source of DNA for forensic analysis, allowing for identification through mitochondrial DNA testing, especially when nuclear DNA is not available. Hair samples can provide crucial evidence in criminal cases.

19) Reliability:
Reliability in forensic DNA testing pertains to the consistency and accuracy of test results over time. High reliability is essential to ensure that the DNA evidence presented in legal settings has been obtained, analyzed, and interpreted according to established scientific criteria, significantly impacting case outcomes.

20) Disease:
Disease refers to a pathological condition affecting an organism. In forensic applications, understanding genetic predispositions to certain diseases can sometimes help in identifying individuals or establishing familial connections through DNA analysis, as certain genetic markers may be associated with hereditary health conditions.

21) Species:
Species denotes a group of organisms that can interbreed and produce fertile offspring. In the context of forensic analysis and DNA profiling, identifying the species present in biological samples is essential for determining the relevance of the evidence collected and distinguishing human samples from those of animals or other organisms.

22) Bitter:
Bitter may refer to a specific characteristic of certain compounds but in a forensic context, it could potentially be symbolic of conflicts or negative aspects surrounding debates in forensic science, such as controversies over the admissibility or interpretation of DNA evidence in legal cases.

23) Police:
Police are law enforcement officers who enforce laws, prevent crime, and investigate offenses. In forensic science, police collect evidence, including biological samples for DNA analysis, supporting criminal investigations and ensuring that proper procedures are followed during the collection and handling of evidence.

24) Natan:
While 'Nathan' could reference a specific individual, in forensic context, it may denote historical figures or fictional examples within the discussions of forensic science methodologies, court cases, or DNA profiling uniqueness that could play a role in illustrating principles of identification and individualization.

25) Rules:
Rules in forensic DNA analysis designate established guidelines governing the methodologies, processes, and legal frameworks within which DNA testing operates. These rules are crucial to maintain standardization, ensuring that forensic evidence is collected, analyzed, and interpreted consistently and reliably across various jurisdictions.

26) Fight:
In this context, 'fight' may relate to struggles related to the acceptance and implementation of DNA evidence in legal proceedings. It underscores the ongoing challenges and tensions between law enforcement, legal representation, and forensic experts regarding the interpretation and implications of DNA findings in court.

27) Shala (Sala):
The term 'sala' typically refers to a hall or meeting space in various languages. In the forensic context, it might metaphorically reference discussions or meetings among scientific communities, where critical topics regarding forensic science methodologies, findings, and standards are debated and shared.

28) Beta:
Beta commonly signifies the second or secondary version of a product or compound. In forensic assessments, a 'beta' version could refer to trial methods or preliminary analyses using beta testing for new DNA profiling techniques before final implementation or acceptance in forensic laboratories.

29) Fish:
Fish may represent a metaphor in discussions surrounding forensic science, representing a case study or specific situation where DNA analysis played a role in identifying or associating elements observed during a criminal investigation. It may also relate to biological studies conducted in forensic settings.

30) Line:
Line typically refers to a continuous extent of something. In the context of forensic genetics, 'line' may symbolize genetic lineage tracing or define the genetic lineages studied through DNA evidence, emphasizing ancestry or familial connections critical in paternity tests or genealogical research.

31) Post:
Post can denote something that comes after or follows. In forensic science, it may relate to post-analysis stages in a criminal investigation, such as evaluating evidence after DNA profiling has been performed, presenting findings in legal situations, or conducting follow-up actions based on results obtained.

32) Transmission:
Transmission refers to the act of passing something from one place to another. In genetics, it pertains to the inheritance of traits or genetic material from one generation to the next. Understanding transmission is vital in forensic investigations, particularly in establishing familial ties and genetic relationships.

33) Surrounding:
Surrounding denotes the area around a particular object or situation. In forensic studies, the surrounding environment can impact the collection and integrity of DNA evidence. Factors such as contamination or exposure to elements in the surrounding area may significantly affect the results of DNA analysis.

34) Measurement:
Measurement refers to the process of determining the size, length, or quantity of something. In forensic DNA analysis, accurate measurement of DNA quantities, such as determining concentration levels during PCR amplification, is crucial for the validity and reliability of results, impacting the overall interpretation and conclusion of the analysis.

35) Accumulation (Accumulating, Accumulate):
To accumulate means to gather or collect over time. In the context of genetic studies, genetic variations and mutations accumulate through generations, influencing the DNA profile. Understanding the accumulation of specific alleles assists forensic scientists in matching samples or establishing familial relationships in cases is crucial.

36) Village:
Village denotes a small community or locality. In forensic investigations, the term may refer to geographical locations where evidence is collected or where certain populations are studied for genetic ancestry. Understanding the village context may be significant in analyzing allele frequencies and establishing genetic traits in investigations.

37) Cutting:
Cutting typically refers to severing or dividing something into pieces. In forensic DNA analysis, the term may illustrate the action of cutting DNA molecules using restriction enzymes during the analysis phase, which is critical for generating distinct fragments necessary for effective profiling and analysis of genetic materials.

38) Account:
Account denotes a narrative or report of an event or situation. In forensic contexts, an account may represent testimonies or reports detailing DNA findings and their implications in a case, providing essential context and perspective about evidence and its relevance during investigations and legal proceedings.

39) Company:
Company refers to an organization or business. In forensic science, it may denote laboratories or firms engaged in DNA testing and analysis, where techniques are developed and refined. Legal and ethical considerations surrounding their practices play a vital role in the credibility of forensic evidence used in court.

40) Repair:
Repair refers to the process of restoring something to a functioning state. In the context of DNA, it relates to the cellular mechanisms that fix damaged DNA. Understanding DNA repair processes is crucial as failures in these systems could lead to mutations, impacting the reliability of genetic profiles in forensic investigations.

41) Silver:
Silver may refer to a color or a metal often associated with value and clarity. In forensic analysis, it can be metaphorically linked to methodologies that enhance the visualization of DNA results on gels or through staining techniques, enabling clearer and more discernible identification of genetic markers in analysis.

42) Filling (Filled):
Filled represents occupying a space entirely. In forensic science, filled may describe the process of capillary tubes filled with mediums to facilitate DNA analysis. Ensuring proper filling of samples during procedures contributes to the accuracy and reliability of separation methods employed in DNA profiling.

43) Sugar:
Sugar refers to a type of carbohydrate, but in the genetic context, it is a key component of DNA. The sugar deoxyribose plays a critical role in forming the backbone of DNA strands. Its structure and presence are essential for maintaining the integrity of genetic material in forensic investigations.

44) Birth:
Birth denotes the emergence of an organism from the womb. In forensic contexts, birth could relate to establishing paternity and analyzing maternal genetic contributions via DNA profiling. Understanding genetic inheritance patterns aids in resolving disputes concerning parentage and familial relationships in legal settings.

45) Stealing (Theft):
Theft refers to the act of stealing. In forensic investigations, DNA profiling plays a crucial role in cases of theft by helping to establish the identity of suspects or victims based on biological evidence collected from crime scenes, which can significantly hasten resolution and judicial processes surrounding such crimes.

46) Road:
Road signifies a pathway or route for transportation. In forensic narratives, it may symbolize the metaphorical journey of advancing forensic techniques and methods or refer to specific crime scene locations. In discussions of justice, it could be the pathway towards solving crimes through DNA analysis and uncovering truths.

Other Science Concepts:

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Discover the significance of concepts within the article: ‘DNA Profiling in Human Identification: From Past to Present’. Further sources in the context of Science might help you critically compare this page with similair documents:

Quality assurance, Polymerase chain reaction, Statistical analyses, Real-time polymerase chain reaction, Restriction fragment length polymorphism, Satellite DNA, Genetic marker, Likelihood Ratio, DNA replication, Mitochondrial DNA, DNA Profiling.

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