scispace - formally typeset
Search or ask a question
Journal ArticleDOI

Encoded evidence: DNA in forensic analysis

01 Oct 2004-Nature Reviews Genetics (Nature Publishing Group)-Vol. 5, Iss: 10, pp 739-751
TL;DR: For example, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases as mentioned in this paper.
Abstract: Sherlock Holmes said "it has long been an axiom of mine that the little things are infinitely the most important", but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.

Content maybe subject to copyright    Report

Citations
More filters
Journal ArticleDOI
TL;DR: High-density single nucleotide polymorphism genotyping microarrays are used to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination.
Abstract: We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed.

1,251 citations

Journal ArticleDOI
TL;DR: The oxylipin jasmonate (JA) regulates many aspects of growth, development, and environmental responses in plants, particularly defense responses against herbivores and necrotrophic pathogens as mentioned in this paper.
Abstract: The oxylipin jasmonate (JA) regulates many aspects of growth, development, and environmental responses in plants, particularly defense responses against herbivores and necrotrophic pathogens. Mutants of Arabidopsis helped researchers define the biochemical pathway for synthesis of jasmonoyl-isoleucine (JA-Ile), the active form of JA hormone, and demonstrated that JA is required for plant survival of insect and pathogen attacks and for plant fertility. Transcriptional profiling led to the discovery of the JASMONATE ZIM-DOMAIN (JAZ) proteins, which are repressors of JA signaling. JA-Ile relieves repression by promoting binding of the JAZ proteins to the F-box protein CORONATINE INSENSITIVE1 (COI1) and their subsequent degradation by the ubiquitination/26S-proteasome pathway. Although we now have a much better understanding of the molecular mechanism of JA action, many questions remain. Experimental answers to these questions will expand our knowledge of oxylipin signaling in plants and animals and will also...

833 citations

Journal ArticleDOI
TL;DR: The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing.
Abstract: Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.

625 citations

Journal ArticleDOI
TL;DR: Advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future, including new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts.
Abstract: Forensic DNA profiling currently allows the identification of persons already known to investigating authorities. Recent advances have produced new types of genetic markers with the potential to overcome some important limitations of current DNA profiling methods. Moreover, other developments are enabling completely new kinds of forensically relevant information to be extracted from biological samples. These include new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts. Such advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future.

433 citations

Journal ArticleDOI
TL;DR: This review examines the advances in paper-based microfluidic diagnostics for medical diagnosis in the context of global health from 2007 to 2016 and highlights emerging health applications, such as male fertility testing and wearable diagnostics.
Abstract: Infectious diseases are a major global health issue. Diagnosis is a critical first step in effectively managing their spread. Paper-based microfluidic diagnostics first emerged in 2007 as a low-cost alternative to conventional laboratory testing, with the goal of improving accessibility to medical diagnostics in developing countries. In this review, we examine the advances in paper-based microfluidic diagnostics for medical diagnosis in the context of global health from 2007 to 2016. The theory of fluid transport in paper is first presented. The next section examines the strategies that have been employed to control fluid and analyte transport in paper-based assays. Tasks such as mixing, timing, and sequential fluid delivery have been achieved in paper and have enabled analytical capabilities comparable to those of conventional laboratory methods. The following section examines paper-based sample processing and analysis. The most impactful advancement here has been the translation of nucleic acid analysis...

409 citations

References
More filters
01 Jan 1959

16,220 citations

Journal ArticleDOI
01 Mar 1985-Nature
TL;DR: A probe based on a tandem-repeat of the core sequence can detect many highly variable loci simultaneously and can provide an individual-specific DNA ‘fingerprint’ of general use in human genetic analysis.
Abstract: The human genome contains many dispersed tandem-repetitive 'minisatellite' regions detected via a shared 10-15-base pair 'core' sequence similar to the generalized recombination signal (chi) of Escherichia coli. Many minisatellites are highly polymorphic due to allelic variation in repeat copy number in the minisatellite. A probe based on a tandem-repeat of the core sequence can detect many highly variable loci simultaneously and can provide an individual-specific DNA 'fingerprint' of general use in human genetic analysis.

3,552 citations

Book ChapterDOI
01 Jan 1972
TL;DR: Lewontin this article pointed out that even in the present era of Darwinism there is considerable diversity of opinion about the amount or importance of intragroup variation as opposed to the variation between races and species.
Abstract: It has always been obvious that organisms vary, even to those pre-Darwinian idealists who saw most individual variation as distorted shadows of an ideal. It has been equally apparent, even to those post-Darwinians for whom variation between individuals is the central fact of evolutionary dynamics, that variation is nodal, that individuals fall in clusters in the space of phenotypic description, and that those clusters, which we call demes, or races, or species, are the outcome of an evolutionary process acting on the individual variation. What has changed during the evolution of scientific thought, and is still changing, is our perception of the relative importance and extent of intragroup as opposed to intergroup variation. These changes have been in part a reflection of the uncovering of new biological facts, but only in part. They have also reflected general sociopolitical biases derived from human social experience and carried over into “scientific” realms. I have discussed elsewhere (Lewontin, 1968) long-term trends in evolutionary doctrine as a reflection of long-term changes in socioeconomic relations, but even in the present era of Darwinism there is considerable diversity of opinion about the amount or importance of intragroup variation as opposed to the variation between races and species. Muller, for example (1950), maintained that for sexually reproducing species, man in particular, there was very little genetic variation within populations and that most men were homozygous for wild-type genes at virtually all their loci.

2,125 citations

Journal ArticleDOI
04 Jul 1985-Nature
TL;DR: It is shown that other variant (core)n probes can detect additional sets of hypervariable minisatellites to produce somatically stable DNA ‘fingerprints’ which are completely specific to an individual (or to his or her identical twin) and can be applied directly to problems of human identification, including parenthood testing.
Abstract: Simple tandem-repetitive regions of DNA (or 'minisatellites') which are dispersed in the human genome frequently show substantial length polymorphism arising from unequal exchanges which alter the number of short tandem repeats in a minisatellite. We have shown previously that the repeat elements in a subset of human minisatellites share a common 10-15-base-pair (bp) 'core' sequence which might act as a recombination signal in the generation of these hypervariable regions. A hybridization probe consisting of the core repeated in tandem can detect many highly polymorphic minisatellites simultaneously to provide a set of genetic markers of general use in human linkage analysis. We now show that other variant (core)n probes can detect additional sets of hypervariable minisatellites to produce somatically stable DNA 'fingerprints' which are completely specific to an individual (or to his or her identical twin) and can be applied directly to problems of human identification, including parenthood testing.

2,033 citations