Development of a forensic skin colour predictive test

Maroñas, Olalla; Phillips, C.; Söchtig, Jens; Gómez-Tato, Antonio; Cruz, Raquel; Alvarez-Dios, J.; Cal, M. Casares de; Ruiz, Y.; Fondevila, M.; Carracedo, Ángel; Lareu, Marı́a Victoria

doi:10.1016/j.fsigen.2014.06.017

Cited by 86 publications

(110 citation statements)

References 60 publications

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“…Numerous new markers are being implemented in advancing the desired goals of investigative authorities, specifically, how forensic genetics can help to improve the collection of the most relevant information in terms of individualization and identification from the least amount of biological samples. Due to their abundant distribution in both the nuclear and mitochondrial genome, SNPs increasingly can provide the genetic background for the prediction of physical characteristics [200,201], or geographical origin [202,203], and can also provide investigative tools to trace unknown individuals [204,205] even from historical remains [206][207][208]. Determination of ancestry [209,210] and externally visible characteristics, such as skin, eye and hair pigmentation [211,212], morphology [213,214], or age [215,216], is an ongoing research field of forensics, requiring both forensic validation of analytical platforms and computation data.…”

Section: Markers For Supplemental Informationmentioning

confidence: 99%

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Pádár¹,

Zenke²,

Kozma³

2018

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

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The importance of biological traces and evidences related to a criminal matter has been recognized for a long time. The examination of the expression of genetic polymorphism has been an integral part of the multidisciplinary field of medico-legal autopsy for over a century. Since the initial application of blood group antigens for personalization of a putative perpetrator in a murder case, the discipline of forensic genetics has evolved as a standard of forensic sciences. The real breakthrough, the application of molecular tools and processes for the in-vitro replication of genetic substances, has increasingly allowed the exploitation of advances of molecular genetics for both forensic and criminal investigations. Although there are certainly many more applications and scientific fields in the medico-legal arena, the relatively fast progress of genetics, which has accelerated recently with state-of-art technologies, can provide ever more relevant information in relation to a corpse or the cause and manner that resulted in the corpse for autopsy. This topic concerns the currently accepted forensic DNA technology, and the last section reviews commonly used markers for nuclear and mitochondrial DNA analysis as well as ongoing research. This review also focuses on the increasingly important non-human sources of DNA, and shortly covers the main aspects of animal forensic DNA examination.

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Section: Markers For Supplemental Informationmentioning

confidence: 99%

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Pádár¹,

Zenke²,

Kozma³

2018

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

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“…For instance, because the major population groups for the development and validation process of the majority of markers established for current prediction models are based on European populations, there have been reports that Western population groups tend to show better results compared to other population groups [10,[16][17][18]. Moreover, despite the growing interest and importance for skin color prediction tool in FDP area, there still lacks the consensus methods for categorizing and recording skin color phenotype [21]. Also, current skin color predictors provide better result in exclusion method, meaning they are better suited for providing the relative skin color prediction result, for instance, differentiating dark skin colored person from the rest of the pool, rather than capable of designating the absolute skin color of the person of the interest [21,25].…”

Section: Limitation: More Work Needs To Be Donementioning

confidence: 99%

“…Moreover, despite the growing interest and importance for skin color prediction tool in FDP area, there still lacks the consensus methods for categorizing and recording skin color phenotype [21]. Also, current skin color predictors provide better result in exclusion method, meaning they are better suited for providing the relative skin color prediction result, for instance, differentiating dark skin colored person from the rest of the pool, rather than capable of designating the absolute skin color of the person of the interest [21,25]. Therefore, the consensus, universal guidelines for categorizing skin color variation as well as the improved set of prediction markers would be necessary to manufacture commercialized products for collective uses.…”

Section: Limitation: More Work Needs To Be Donementioning

confidence: 99%

“…The drawback is that these monomorphic traits cannot provide any useful information when finding the investigative leads in Korea, which these platforms would predict every individual as brown eye with dark hair. In other words, alternate approach is required when distinguishing an individual within East Asian populations based on phenotypic traits; additional assessments would be needed to decide which markers to keep and which markers to retract for constructing Korean specific prediction tools [12,20,21].…”

Section: Evc Research In Korea/east Asiamentioning

confidence: 99%

“…For skin color prediction, Stokowski et al [20] examined predictability of skin color using three genes, SLC24A5, SLC45A2, and TYR, that showed the strongest association in skin color variation [20,21]. Along with these genes, Maronas et al [21] has discovered additional 10 SNPs that are the most strongly associated with skin color and these markers can now be used for forensic purposes [20].…”

Section: Introductionmentioning

confidence: 99%

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Forensic DNA Phenotyping: A Review in Korean Perspective

et al. 2017

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Prediction of Human Pigmentation Traits from DNA Polymorphisms

Branicki

Kayser

2015

Encyclopedia of Life Sciences

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Driven by recent evolutionary history, pigmentation traits significantly contribute to the most obvious parts of the overall human phenotypic diversity with skin colour varying between worldwide individuals, while eye and hair colour differences only exist in individuals of European (and neighbouring region) descent. Genetic association studies have discovered various DNA variants that together explain large proportion of phenotypic variance in eye, hair and skin colouration. Besides providing leads in the molecular understanding of human pigmentation, multiple associated DNA variants have also been used for prediction modelling of pigmentation traits. The success of DNA‐based pigmentation prediction laid the foundation for a new subfield of forensic genetics known as Forensic DNA Phenotyping, which aims to help finding unknown perpetrators. Pigmentation DNA prediction is further relevant in anthropological research from old and ancient human remains for reconstructing colour phenotypes of deceased persons including those of historical importance. Key Concepts Driven by recent evolutionary history, differences in pigmentation significantly contribute to the phenotypic diversity in humans. Eye, hair and skin colour reflect complex traits with multiple genes and environmental factors determining phenotypic variation distributed differently around the world. Gene mapping studies identified a number of pigmentation genes that typically but not necessarily determine all three pigmentation traits in humans. Multiple pigmentation‐associated DNA variants have proven useful to predict all three human pigmentation traits with varying accuracies. Several DNA test systems are available for accurate prediction of blue and brown eyes, while for other eye colours further research is needed. Available DNA test systems for hair colour provide accurate prediction of red and (albeit less so) of black hair, while the DNA prediction of blond and brown hair is troubled by age‐dependent hair colour changes in some (but not all) individuals not yet understood on the molecular level. Of the three human pigmentation traits, DNA prediction of skin colour is least advanced, requiring considerable further research. Current DNA prediction on the level of categorical eye, hair and skin colour shall be improved towards more detailed colour phenotypes, if the necessary DNA predictors become available via dedicated future research. Forensic science is a major recipient of pigmentation predictive DNA tests, where they are used to trace unknown perpetrators unidentifiable via conventional DNA profiling. Pigmentation DNA prediction is also relevant in anthropological and human evolutionary research particularly from old and ancient human remains.

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Development of a forensic skin colour predictive test

Cited by 86 publications

References 60 publications

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Forensic DNA Phenotyping: A Review in Korean Perspective

Prediction of Human Pigmentation Traits from DNA Polymorphisms

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