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PubMed2005

SNP typing in forensic genetics: a review.

Single nucleotide polymorphisms (SNPs) are emerging as new markers of interest to the forensic community because of their abundance in the human genome, their low mutation rate, the opportunity they present of analyzing smaller fragments of deoxyribonucleic acid (DNA) than with short tandem repeats--important in degraded DNA samples--and the possibility of automating the analysis with high-throughput technologies. Many new technologies for genotyping SNPs have been developed in the past few years. We describe the principles of the allelic discrimination reactions and the technologies used for each of them. The aim of this chapter is to help in the understanding of the methodologies used in SNP genotyping and in the selection of the most appropriate techniques for forensic purposes.

Alleles↗
PubMed2005

SNPs in forensic genetics: a review on SNP typing methodologies.

There is an increasing interest in single nucleotide polymorphism (SNP) typing in the forensic field, not only for the usefulness of SNPs for defining Y chromosome or mtDNA haplogroups or for analyzing the geographical origin of samples, but also for the potential applications of autosomal SNPs. The interest of forensic researchers in autosomal SNPs has been attracted due to the potential advantages in paternity testing because of the low mutation rates and specially in the analysis of degraded samples by use of short amplicons. New SNP genotyping methods, chemistries and platforms are continuously being developed and it is often difficult to be keeping up to date and to decide on the best technology options available. This review offers to the reader a state of the art of SNP genotyping technologies with the advantages and disadvantages of the different chemistries and platforms for different forensic requirements.

DNA Fingerprinting↗
PubMed1999

D18S535, D1S1656 and D10S2325: three efficient short tandem repeats for forensic genetics.

Three short tandem repeat (STR) polymorphisms characterized by PCR product length < 175 bp were investigated. D18S535 and D1S1656 contained a 4 bp unit as basic repeat motif, D10S2325 a 5 bp unit. The heterozygosity rates were 0.76 (D18S535), 0.88 (D10S2325) and 0. 90 (D1S1656), leading to a combined discrimination power of 0.9999. In contrast to D10S2325 and D18S535, which showed a homogeneous repeat array without any variation in the repeat motifs, repeat length and sequence variation was found for D1S1656. Robust typing results could be observed for all three STRs using highly degraded DNA.

Alleles↗
PubMed2003

Molecular epidemiology and forensic genetics: application to a hepatitis C virus transmission event at a hemodialysis unit.

Molecular phylogenetic analyses are frequently used in epidemiologic testing, although only occasionally in forensics. Their acceptability is hampered by a lack of statistical confidence in the conclusions. However, maximum likelihood testing provides a sound statistical framework for the testing of phylogenetic hypotheses relevant for forensic analysis. We present the results of applying this method to a small hepatitis C outbreak produced in a hospital hemodialysis unit that involved 6 patients. Polymerase chain reaction products from a 472-nt fragment of the E1-E2 region, including the hypervariable region, HVR-1, of the hepatitis C virus genome were cloned, and an average of 10 clones/patient and from 11 additional control patients were sequenced. The method allows a statistical evaluation that the likelihood of each sample belonging or not to a given group, a question of relevance in many forensic and epidemiological analyses of molecular sequences.

Cross Infection↗
PubMed2003

Cell line DNA typing in forensic genetics--the necessity of reliable standards.

The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. This paper aims to provide a panel of reference DNAs for actual forensic profiling strategies, i.e. autosomal and gonosomal STR typing as well as mtDNA sequencing. We have characterised three human lymphoid cell lines, GM9947, GM9948 and GM3657, and considered 58 autosomal and gonosomal microsatellites as well as the mitochondrial control region sequence. Well-established markers and STRs recently developed for forensic use were involved. K562 DNA samples which we purchased from two different suppliers were also analysed. They revealed conflicting results with regard to the ChrX STR marker genotype. Hence, we suggest that K562 is no longer used for the calibration of profiling techniques. Our investigation establishes a panel of one female and two male DNA samples as an STR allelic ladder calibration tool and offers information on six alleles of each autosome (AS) marker, three alleles of each X chromosome (ChrX) marker and two alleles of each ChrY marker. In addition, sequences of the mitochondrial control region of the three DNAs are communicated in order to provide sequencing quality control.

Cell Line, Tumor↗
PubMed1980

Exclusions and attributions of paternity: practical experiences of forensic genetics and statistics.

The Swedish State Institute for Blood Group Serology is a central government laboratory handling all blood typing in paternity cases in Sweden, each year testing 1,500-2,000 cases using about 13 polymorphisms. Of the accused men, 35%-40% are nonfathers, but in one-man cases (about 78% of all cases), approximately 75% are the true fathers. Exclusions appear to be distributed as expected from allele frequencies, and the paternity probability of nonexcluded men is assessed with a Bayesian approach. Some cases are retested in extended investigations which raise theoretical exclusion capability from about 87% to about 99%. Both the results of extended investigations and the theoretical consideration of the distribution of paternity probabilities support the use of such positive statistical evidence for the attribution of paternity.

Adult↗
PubMedDate not supplied

Genetic witness: forensic uses of DNA tests.

"Genetic Witness: Forensic Uses of DNA Tests" summarizes the findings of a 204-page report by the U.S. Congressional Office of Technology Assessment (OTA). It reviews the DNA techniques used in criminal casework, evaluates the validity and reliability of the technologies, examines issues of quality assurance, reviews the legal implications of the use of DNA tests by U.S. courts, and analyzes the privacy implications of forensic DNA tests and computer databanks. It presents a range of actions that could be taken by the U.S. Congress to address five policy issues: standards for forensic uses of DNA typing; funding of crime laboratories, forensic personnel training, and forensic research; the advisability of establishing computer databanks of DNA test results; and privacy considerations of collecting, using, and storing DNA data or samples.

Confidentiality↗
PubMedDate not supplied

Ontogeny and dental genetics in forensic problems.

Teeth are an excellent and reliable source of information useful in establishing identities in the absence of dental records providing that matching dental casts or teeth of other possibly related family members are available and that information on dental trait frequencies can be obtained. Such demographic data is generally available from physical or odontological anthropology departments in universities or museums. The data collected is subjected to statistical scrutiny and treatment of probability methodology.

Child, Preschool↗
PubMed1994

Psychiatric genetics and forensic psychiatry: a review.

Research in psychiatric genetics has been revolutionized by the development of new and powerful molecular genetic techniques. Family, twin, and adoption studies of antisocial personality disorder (ASPD) and criminality are reviewed, and ramifications of new research methods for the study of antisocial behavior are considered. Implications of these developments for forensic psychiatry are discussed.

Antisocial Personality Disorder↗
PubMed2005

Forensic DNA-typing technologies: a review.

Since the discovery of deoxyribonucleic acid (DNA) profiling in 1985, forensic genetics has experienced a continuous technical revolution, both in the type of DNA markers used and in the methodologies or its detection. Highly informative and robust DNA-typing systems have been developed that have proven to be very effective in the individualization of biological material of human origin. DNA analysis has become the standard method in forensic genetics used by laboratories for the majority of forensic genetic expertise and especially in criminal forensic casework (stain analysis and hairs) and identification.

DNA↗
PubMed1998

Progress in methodology and standards in European molecular genetics laboratories.

The enormous expansion in the application of the technologies of molecular and cell biology with the objective of resolving medical problems is discussed, as well as the problems arising due to this revolution. Progress in methodology is also reported paying special attention to chip technology. The different types of chips, strategies for readout, and applications are described. The difficulties in achieving common standards in Molecular Genetics are analysed as well as the need to develop European networks of genetic testing laboratories. Forensic genetics is a particular field where the progress in technical and procedural standards has been considerable in European labs. Molecular genetic laboratories with other medical applications could benefit from the progress in standards in the forensic field.

Europe↗