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Evolution & Application of Genetic Markers in Forensic Genetics: DNA to RNA & Proteins, Monografías, Ensayos de Genética

This editorial explores the history and development of genetic markers in forensic genetics, from the discovery of abo blood groups to the current use of molecular markers such as short tandem repeats (strs) and single nucleotide polymorphisms (snps). The article also discusses the emerging role of rna-level and protein-level markers in forensic genetics research.

Tipo: Monografías, Ensayos

2019/2020

Subido el 27/04/2020

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EDITORIAL
Forensic genetics
Like other subjects, forensic genetics gradually
emerged and developed through long-term social
practice. Following the discovery of the ABO blood
groups by Landsteiner in 1900 [1], human blood
type was used in identification, and forensic genetics
entered the scientific age. In 1910, the French crim-
inologist Edmond Locard proposed the Locards
exchange principle [2] and stated that every contact
leaves a trace,which laid the foundation for modern
forensic science. In 1926, Thomas Hunt Morgan [3]
proposed a theory of genes, which provided the basis
for the development of forensic genetics. In 1953, the
discovery of the double-helical structure of DNA
enabled the start of forensic genetics research at the
molecular level [3].
One of the central aspects of forensic genetics is
the use of genetic markers, which are the easily
identifiable phenotypes of genotypes. Genetic
markers generally have features such as strong poly-
morphisms, codominant expression and ease of
observation and recording. With the development of
genetics, the use of genetic markers has also devel-
oped steadily. To date, the development of genetic
markers has gone through four major stages charac-
terized by the use of morphological markers, cyto-
logical markers, biochemical markers and molecular
markers. In particular, this present special issue pro-
vides an introduction to the application and devel-
opment for molecular markers in forensic areas.
During the early 1990s, short tandem repeats
(STRs) were used for the first time as key molecular
markers in human paternity testing. The first foren-
sic multiplex amplification STR kit was developed
by Britains Forensic Science Service (FSS) and
included four genetic loci: TH01, vWA, FES/FPS
and F13A1. Today, commercial STR kits can gener-
ally detect 1520 STR loci at one time. With the
advancement of fluorescent marker techniques, six-
color fluorescent marker STR kits have appeared on
the market, and 2530 STR loci can be detected.
The International Society for Forensic Genetics
(ISFG) has drafted a guide to the forensic validation
of STR kits, and this guide provides excellent stand-
ards and guidance for the forensic application of
STR kits.
The rapid development of massively parallel
sequencing (MPS) has attracted widespread atten-
tion among forensic genetics researchers. STR typ-
ing based on capillary electrophoresis can only
reflect differences in length; however, MPS can also
reveal differences in the internal sequence and flank-
ing structure of STRs, which tremendously increases
the available genetic information and provides a
new possible method for difficult cases involving
complex kinship identification and the resolution of
mixtures. In addition, the development of MPS has
also promoted metagenomics research. In recent
years, metagenomics has developed as a new branch
of microbial ecology that addresses the microbial
composition and diversity of different environments,
and microbial community membersrelationships
with each other and their environment.
Metagenomics is gradually being applied in areas
connected with forensic identification such as indi-
vidual identification, identification of the source of
biological stains in crime scenes and the detection
of drug abuse, which has also brought new research
opportunities.
Since forensic polymorphic STR loci are limited
in number and cannot provide more functional
information, which hampers the effectiveness of the
application in forensic community, a new type of
genetic marker, single nucleotide polymorphisms
(SNPs), may replace STRs in the future, although
this process may take a considerable period of time.
Compared with STR loci, SNP sites have a lower
mutation rate, approximately 10
8
[4], and the amp-
lification products of individual SNP sites can be
very short, which makes SNPs suitable for the ana-
lysis of highly degraded forensic samples. SNP ana-
lysis already plays an important role in the
identification of individuals after mass disasters.
Furthermore, SNPs are linked with multiple pheno-
types, such as individuals skin color, sclera color,
hair curliness, information concerning ethnic origin,
differences in alcohol metabolism and susceptibility
to hereditary diseases. The aforementioned advan-
tages of SNPs have all been successfully applied, and
SNP analysis occupies an unsurpassed position in
forensic practice. Thanks to ongoing research
advances, reliance on SNP testing to obtain DNA
ß2018 The Author(s). Published by Taylor & Francis Group on behalf of the Academy of Forensic Science.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits
unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
https://doi.org/10.1080/20961790.2018.1489445
FORENSIC SCIENCES RESEARCH, 2018
VOL. 3, NO. 2, 103104
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EDITORIAL

Forensic genetics

Like other subjects, forensic genetics gradually emerged and developed through long-term social practice. Following the discovery of the ABO blood groups by Landsteiner in 1900 [1], human blood type was used in identification, and forensic genetics entered the scientific age. In 1910, the French crim- inologist Edmond Locard proposed the Locard’s exchange principle [2] and stated that “every contact leaves a trace,” which laid the foundation for modern forensic science. In 1926, Thomas Hunt Morgan [3] proposed a theory of genes, which provided the basis for the development of forensic genetics. In 1953, the discovery of the double-helical structure of DNA enabled the start of forensic genetics research at the molecular level [3]. One of the central aspects of forensic genetics is the use of genetic markers, which are the easily identifiable phenotypes of genotypes. Genetic markers generally have features such as strong poly- morphisms, codominant expression and ease of observation and recording. With the development of genetics, the use of genetic markers has also devel- oped steadily. To date, the development of genetic markers has gone through four major stages charac- terized by the use of morphological markers, cyto- logical markers, biochemical markers and molecular markers. In particular, this present special issue pro- vides an introduction to the application and devel- opment for molecular markers in forensic areas. During the early 1990s, short tandem repeats (STRs) were used for the first time as key molecular markers in human paternity testing. The first foren- sic multiplex amplification STR kit was developed by Britain’s Forensic Science Service (FSS) and included four genetic loci: TH01, vWA, FES/FPS and F13A1. Today, commercial STR kits can gener- ally detect 15–20 STR loci at one time. With the advancement of fluorescent marker techniques, six- color fluorescent marker STR kits have appeared on the market, and 25–30 STR loci can be detected. The International Society for Forensic Genetics (ISFG) has drafted a guide to the forensic validation of STR kits, and this guide provides excellent stand- ards and guidance for the forensic application of STR kits.

The rapid development of massively parallel sequencing (MPS) has attracted widespread atten- tion among forensic genetics researchers. STR typ- ing based on capillary electrophoresis can only reflect differences in length; however, MPS can also reveal differences in the internal sequence and flank- ing structure of STRs, which tremendously increases the available genetic information and provides a new possible method for difficult cases involving complex kinship identification and the resolution of mixtures. In addition, the development of MPS has also promoted metagenomics research. In recent years, metagenomics has developed as a new branch of microbial ecology that addresses the microbial composition and diversity of different environments, and microbial community members’ relationships with each other and their environment. Metagenomics is gradually being applied in areas connected with forensic identification such as indi- vidual identification, identification of the source of biological stains in crime scenes and the detection of drug abuse, which has also brought new research opportunities. Since forensic polymorphic STR loci are limited in number and cannot provide more functional information, which hampers the effectiveness of the application in forensic community, a new type of genetic marker, single nucleotide polymorphisms (SNPs), may replace STRs in the future, although this process may take a considerable period of time. Compared with STR loci, SNP sites have a lower mutation rate, approximately 10^8 [4], and the amp- lification products of individual SNP sites can be very short, which makes SNPs suitable for the ana- lysis of highly degraded forensic samples. SNP ana- lysis already plays an important role in the identification of individuals after mass disasters. Furthermore, SNPs are linked with multiple pheno- types, such as individual’s skin color, sclera color, hair curliness, information concerning ethnic origin, differences in alcohol metabolism and susceptibility to hereditary diseases. The aforementioned advan- tages of SNPs have all been successfully applied, and SNP analysis occupies an unsurpassed position in forensic practice. Thanks to ongoing research advances, reliance on SNP testing to obtain DNA

ß 2018 The Author(s). Published by Taylor & Francis Group on behalf of the Academy of Forensic Science. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

https://doi.org/10.1080/20961790.2018.

FORENSIC SCIENCES RESEARCH, 2018 VOL. 3, NO. 2, 103– 104

portraits no longer appears to be an impos- sible dream. Apart from DNA-level genetic markers, RNA- level genetic markers have also become a new type of marker and research hotspot in forensic genetics. In 2000, progress in RNA research was acclaimed by Science as a major scientific breakthrough. A ser- ies of groundbreaking advances in RNA research during the past 20 years have enabled RNA to escape from the brilliance of DNA’s aura, have changed RNA from the “supporting role” to the “leading role” and have made RNA a new challenge to DNA’s central position. In the field of forensics, steady progress is being made in applied research involving the use of RNA to identify racial affili- ation, the identification of bodily fluids, the deter- mination of time of death and the analysis of injuries. In addition, thanks to their advantages of convenience, economy, speed and precision, pro- tein-level genetic markers offer great promise in forensic genetics and related fields. In summary, the application of genetic markers has advanced in pace with the scientific knowledge and technological capabilities, which has expanded and changed the scope of forensic genetics research. From the dual perspectives of the development of genetic markers and their applications, the papers in this special issue explain that forensic genetics

research is no longer limited to DNA-level markers but also includes RNA-level and protein-level markers. The scope of forensic genetics research is no longer limited to conventional determination of kinship and individual identification; it has steadily branched out into areas such as forensic clinical medicine, forensic pathology and forensic psych- iatry, yielding many new findings and applications.

References [1] Yamamoto F, Hakomori S. Sugar-nucleotide donor specificity of histo-blood group A and B transfer- ase is based on amino acid substitutions. Nature. 1990;265:19257–19262. [2] Byard RW, James H, Berketa J, et al. Locard’s principle of exchange, dental examination and fragments of skin. J Forensic Sci. 2016;61:545–547. [3] Reich DE, Schaffner SF, Daly MJ, et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet. 2002;32:135–142. [4] Kidd KK, Pakstis AJ, Speed WC, et al. Developing a SNP panel for forensic identification of individu- als. Forensic Sci Int. 2006;164:20–32.

Chengtao Li Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Shanghai, China [email protected]

104 EDITORIAL