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[Genetic polymorphism of FXIII B subunit in seven Chinese populations].

OBJECTIVE: To understand the distribution of allele frequencies of blood factor XIIIB subunit(FXIIIB) in Chinese populations and evaluate the genetic polymorphism of FXIIIB for the purposes of population genetics and forensic haemogenetics. METHODS: The genetic polymorphism of FXIIIB subunit in seven Chinese populations was investigated. Isoelectrofocusing technique on polyoacrylamid gels followed by immunoblotting was used to determine the phenotype of individuals in each population sample. RESULTS: There were three common alleles in all the seven Chinese populations. The frequency of FXIIIB*3 was the highest, that of FXIIIB*2 was the lowest, and the one of FXXIIIB*1 was at the middle. All of them reached to the polymorphism's level. A rare variant allele was also found in some Chinese populations. Comparison of the constituents of FXIIIB phenotypes in the seven populations showed that there was no significant difference (P>0.05). The distribution of the allele frequencies in these populations reflected most likely the mode of the distribution in all Chinese populations. The phylogenetic tree and genetic distance, based on the allele frequencies of FXIIIB differentiated the populations in the world into the main ethnic groups as what other authors reported. CONCLUSION: FXIIIB is a useful genetic marker for population genetics and forensic haemogenetics.

China↗

History of forensic serology and molecular genetics in the sphere of activity of the German Society for Forensic Medicine.

In the field of forensic serology, essential developmental impulses have come from the sphere of activity of the German Society for Forensic Medicine. Among these are the orientating enzyme-reactive and specific tests for blood using crystallization tests, the determination of the species-specificity of the donor of the stain and the beginning of the individualization of a stain to its donor. Pioneering work has also been done in the development of blood group serology of the conventional markers. DNA analysis originated in the Anglo-Saxon region. The German Society for Forensic Medicine also contributed to its further progress and essentially influenced it e.g. by the discovery of microsatellite markers, including STRs, by the validation of numerous test methods, by optimization of these methods and by preliminary work for the use of mass spectrometry in DNA analysis.

Europe↗

Application of hypervariable genetic markers to forensic identification of 'wild' from hatchery-raised red drum, Sciaenops ocellatus.

Forensic identification of 'wild' versus hatchery-produced (cultured) red drum (Sciaenops ocellatus), an economically important marine fish in the southern United States, was assessed using hypervariable nuclear-encoded microsatellites and sequences of mitochondrial DNA. Both genotype exclusion and likelihood-ratio tests successfully identified 'wild' and 'cultured' individuals within requisite error bounds and within the context of complete parental sampling. Of the two, genotype exclusion was more effective, producing satisfactory results with fewer microsatellites and larger allowable error rates. Assignment tests proved ineffective, most likely because of the low level of genetic divergence between the sampled populations. An optimal, minimum set of ten markers that will reduce potential genotyping costs is identified. Results of the study should allay concerns regarding identification of 'wild'-caught fish sold illegally.

Animals↗

Genetic identification of forensically important flesh flies (Diptera: Sarcophagidae).

Unequivocal identification of fly specimens is an essential requirement in forensic entomology. However, not all species can be determined at every developmental stage, which is illustrated by the flesh flies (Diptera: Sarcophagidae), important members of the necrophagous insect fauna. Up to now no suitable key for the identification of the immature stages of this family of flies exists. DNA analysis of selected mitochondrial genes was applied to solve this problem. Sequence data of selected regions of the CO I and ND 5 genes of the most important European flesh fly taxa associated with cadavers are presented, which can act as reference standards for species determination.

Animals↗

[Sequence analysis of DYS522 and DYS527 loci and their genetic polymorphism among Guangdong Han population].

Analyzed the sequence characteristics and the genetic polymorphism of two new Y-STR loci: DYS522 and DYS527, in 151 unrelated Han males in the Guangdong Province. The results show that the DYS522 locus consists of repeats of a core sequence (GATA), with the number of repeats ranging between 9 and 13. The DYS527 locus contains two copies of a sequence motif. This motif has the following modular structure: (GGAA)3...(GGAA)2...(GGAA)2...(GGAA)3...(GGAA)4...(GGAA)3...(GAAA)m(GGAA)n, where the value of (m + n) ranges between 18 and 26 among different individuals. A rare copy with 15.3 (m+n) repeats was found. Altogether, 63 different haplotypes of these two loci were identified. Of these, 29 occurred only once, with a frequency of 0.0066, and the most common haplotype occurred at a frequency of 0.0728. This system has a haplotype diversity (HD) of 0.9780, and a discriminating power (DP) of 0.9715. The analysis of 38 father/son pairs has detected no mutation event at the DYS522 and DYS527 loci within any pair. It is found that these two loci are specific to the human species. These results indicate the DYS522/DYS527 loci to be highly polymorphic and useful genetic markers in forensic science and human evolution studies.

Alleles↗

[The restrictase analysis of human DNA as a method for determining genetic sex in forensic biological expertise].

In this article phenomena related to sex heteromorphism of restrictase hydrolysates of DNA, isolated from objects of expert analysis was recommended for use. The performed investigations allow one to work out the system of discriminating sex of biological objects, based on restrictase analysis of human DNA and on registration of sex-specific restrictase fragments. Possibilities of method and its value for gene-identification expertise were illustrated using certain cases from expert practice.

Autoradiography↗

An STR forensic typing system for genetic individualization of domestic cat (Felis catus) samples.

A forensic genotyping panel of 11 tetranucleotide STR loci from the domestic cat was characterized and evaluated for genetic individualization of cat tissues. We first examined 49 candidate STR loci and their frequency assessment in domestic cat populations. The STR loci (3-4 base pair repeat motifs), mapped in the cat genome relative to 579 coding loci and 255 STR loci, are well distributed across the 18 feline autosomes. All loci exhibit Mendelian inheritance in a multi-generation pedigree. Eleven loci that were unlinked and were highly heterozygous in cat breeds were selected for a forensic panel. Heterozygosity values obtained for the independent loci, ranged from 0.60-0.82, while the average cat breed heterozygosity obtained for the 11 locus panel was 0.71 (range of 0.57-0.83). A small sample set of outbred domestic cats displayed a heterozygosity of 0.86 for the 11 locus panel. The power of discrimination of the panel is moderate to high in the cat breeds examined, with an average P(m) of 3.7E-06. The panel shows good potential for genetic individualization within outbred domestic cats with a P(m) of 5.31E-08. A multiplex protocol, designed for the co-amplification of the 11 loci and a gender-identifying locus, is species specific and robust, generating a product profile with as little as 0.125 nanograms of genomic DNA.

Animals↗

[Possible unfavourable effects of using in-house components for forensic expert molecular-genetic technologies].

So-called in-house production of reagents, components and kits for DNA analysis which are made without strict quality control and standards are now widely practiced in forensic molecular-genetic examinations. Markers of molecular mass were studied to illustrate problems which may arise in use of such in-house components. Other difficulties and negative sequelae of in-house products are also demonstrated.

Biotechnology↗

[Bioethical principles concerning human genetic data].

UNESCO'S Universal declaration on the human genome and human rights (1997) has been accepted by the international scientific community. To apply these laws, it is necessary to get more specific rules about data regulation, human genetic samples and its derived information in biomedic research. Indeed, genetic material recollection, processing, use and storing, has potential risks over human rights' protection and exercise. The author, member of UNESCO'S intergovernmental Bioethics Committee which approved the final draft in June 2003, has taken part in the writing of the final text of an international declaration about human genetic data, whose abbreviate text is described and commented in this communication.

Biological Specimen Banks↗

[Analysis of polymorphism of ACTBP2 locus in Han population in Chengdu and triplexing of three STR loci].

OBJECTIVE: To obtain the polymorphism of ACTBP2 locus in Han Chinese in Chengdu and establish the triplexing of three STR loci (DHFRP2,FIBRA and ACTBP2). METHODS: Amp-FLP, PAGE and silver stain were used to analyze 147 individuals. RESULTS: Twenty alleles and 86 genotypes were observed in ACTBP2. The discriminating power (DP), observed heterozygosity(h), polymorphism information content (PIC) and chance of paternity exclusion power (EP) were 0.9861, 0.9728, 0.9310 and 0.8203, respectively. The distributions of the genotypes were in good agreement with Hardy-Weinberg equilibrium. Studies of the families revealed that the locus was in accord with the Mendelian law. CONCLUSION: These data indicate that ACTBP2 is of good polymorphism and can be applied to human genetic study, forensic parentage testing and identification.

Alleles↗

Sequencing mitochondrial DNA from a tooth and application to forensic odontology.

Genetic identification can be complicated by long intervals between the time of death and examination of tissues, and sometimes only bone and teeth may be available for analysis. Several investigators have described the isolation of nuclear DNA from these materials, but all have indicated that the DNA is significantly degraded. Recently, the polymerase chain reaction (PCR) and direct DNA sequencing have enabled rapid and reliable characterization of specific highly polymorphic DNA sequences from different individuals. Above all, mitochondrial DNA sequences offer several unique advantages for the identification of human remains. The isolation of mtDNA from a tooth and the symmetrical PCR amplification and direct DNA sequencing of its most polymorphic regions are reported.

Alleles↗

Race and genetics: controversies in biomedical, behavioral, and forensic sciences.

Among biomedical scientists, there is a great deal of controversy over the nature of race, the relevance of racial categories for research, and the proper methods of using racial variables. This article argues that researchers and scholars should avoid a binary-type argument, in which the question is whether to use race always or never. Researchers should instead focus on developing standards for when and how to use racial variables. The article then discusses 1 context, criminology, in which the use of racial variables in behavioral genetics research could be particularly problematic. If genetic studies of criminalized behavior use forensic DNA databanks or forensic genetic profiles, they will be confounded by the many racial biases of the law enforcement and penal system.

Behavior↗

[Empirical Classification of Tri-Allelic Genotype Cases and Parentage Index Calculation].

OBJECTIVES: To standardize the calculation method of the parentage index (PI) for short tandem repeat (STR) tri-allelic genotypes, thereby ensuring the accuracy and reliability of parentage tes‑ ting conclusions. METHODS: A systematic analysis of 160 real cases was conducted. A classification system was constructed based on the occurrence mechanisms and inheritance patterns of STR tri-alleles, and the PI calculation method was optimized by integrating previous research findings with empirical data. RESULTS: A mechanism-based classification system for STR tri-allelic genotypes was established, comprising Type I (2 subtypes), Type II (6 subtypes), and the trisomic type (2 subtypes). On this basis, a standardized PI calculation method covering all categories of STR tri-allelic genotypes was developed. CONCLUSIONS: This study provides methodological guidance for the scientific and standardized calculation of PI for STR tri-allelic genotypes and offers an important reference for the formulation and refinement of relevant industry standards.

Humans↗

The forensic DNA implications of genetic differentiation between endogamous communities.

In many indigenous minority populations, and among migrants from Asian and African populations now resident in western Europe, North America and Australia, there is a strong tradition of endogamy and a preference for consanguineous unions. These marriage practices can result in F(ST) values greatly in excess of the maximum value (0.01) currently recommended for forensic DNA purposes under guidelines established by the National Research Council (NRC) of the USA. To examine the possible extent of deviation from this accepted norm, three co-resident Pakistani communities were studied using 10 autosomal dinucleotide markers and six tetranucleotide markers on the Y-chromosome. The mean population subdivision coefficient (FST) value was 0.13 for the autosomal loci, and Y-chromosome loci exhibited even stronger differentiation with unique alleles identified in all three communities. The data indicate that even when sub-populations are virtually indistinguishable in terms of anthropology, geography, ethnicity or culture, they may still exhibit major genetic differentiation. Where significant population stratification is known to exist, more detailed genetic databases should be developed for forensic DNA purposes, based on reference data from each of the appropriate sub-populations and not on random or combined samples.

Consanguinity↗