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PubMedDate not supplied

[An algorithm of computerized processing of molecular-genetic data for personality identification based on the outcome of events involving numerous victims].

Computerized systems of data processing are a high-efficiency tool for the storage and processing of big volumes of molecular genetic data as well as for the forensic medical identification of personality in events involving enormous unidentified bodies coming from zones of calamity or natural disaster. Described in the paper is a sequence of actions undertaken by the expert when the DNAdacto and mDNAbase soft tools are in use. The algorithm of computer-based expert analysis of typing of chromosome and mitochondrial DNA was tested at the 124th Central laboratory of medical-criminal identification of Russia's defense ministry; it was proven to be highly effective for identification made in events with numerous unidentified bodies.

Algorithms↗

PubMed2004

[Chromosome STR genetic markers in paternity identification].

OBJECTIVE: To explore the application of paternity identification by chromosome STR genetic markers (short tandem repeat). METHODS: The paternity testings in 468 cases were routinely carried out using amphibian STR Profiler plus and Cofiler PCR amplification kits. When STR exclusions were found, HLA system and other blood groups were detected by molecular typing and loci of PowerPlex 16 system. STR loci were genotyped. If necessary, the genotyping of Y chromosome specific STR, X chromosome specific STR and HLA allelic sequencing were added. RESULTS: W of 408 cases of paternity was more than 0.95, and that of 350 cases was more than 0. 9995. W of 60 cases of unrelated individuals was less than 0.8, and that of another 48 cases was less than 0.27. By Chi-Square test, there was significant difference (P < 0.001) in the entire-same allelic genes and the entire-different allelic genes and no significant difference (P > 0.05) in the half-same between allelic genes the two groups. CONCLUSION: It is effective to identify the paternity by STR genetic markers. The pair is related when the locus number of entirely-different allelic genes is less than 1 or that of the entirely-same allelic genes is more than 6.

DNA Fingerprinting↗

PubMed2003

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.

This article describes a generic model for access to samples and information in human genetic databases. The model utilises a "GeneTrustee", a third-party intermediary independent of the subjects and of the investigators or database custodians. The GeneTrustee model has been implemented successfully in various community genetics screening programs and has facilitated research access to genetic databases while protecting the privacy and confidentiality of research subjects. The GeneTrustee model could also be applied to various types of non-conventional genetic databases, including neonatal screening Guthrie card collections, and to forensic DNA samples.

Confidentiality↗

PubMed1993

[Genetic polymorphism of inter-alpha-trypsin-inhibitor (ITI) in a Han population in China].

Phenotypes of inter-alpha-trypsin-inhibitor (ITI) have been determined by isoelectric focusing on the polyacrylamide gel followed by immunofixation. The phenotype frequencies of ITI in the Han population in Chengdu, China were investigated using this method. In addition, family studies have been conducted in 21 families. The results showed that the ITI was polymorphic in the Han population in Chengdu. The allele frequencies were as follows: ITI*1 = 0.5763, ITI*2 = 0.4107, ITI*3 = 0.0130. It was obvious that the ITI is a new and promising genetic marker which can be used in the field of forensic haematogenetics.

Alpha-Globulins↗

PubMed1999

Population genetics of the STRs vWA, D3S1358 and FGA in the Pomerania-Kujawy region of Poland.

This paper presents the results of a Polish population study (n = 210) for the three STR loci vWA, D3S1358 and FGA analysed using the multiplex PCR system AmpflSTR Blue. The allele distributions were in accordance with Hardy-Weinberg expectations. The combined mean exclusion chance, mean paternity index and power of discrimination for the three loci were MEC = 0.96055, MPI = 127.1295 and PD = 0. 99986. This demonstrates that these systems are valuable tools for forensic identification and paternity testing.

Alleles↗

PubMed2004

'Wonderment and dread': representations of DNA in ethical disputes about forensic DNA databases.

The national DNA Database of England & Wales is the largest forensic DNA database in the world. Since 1995 it has quickly developed to hold the genetic profiles of over two million people. This collection of tissue samples, taken without consent from a sizeable collection of the population, has engendered a number of ethical commentaries on its legitimacy as a proportionate response to crime. This paper examines the ways in which the ethical discourses, which surround the uses of the National DNA Database, drew upon and deployed a number of distinct representations of DNA. It is argued that key ideas about DNA have become central to everyday assertions about the benefits and dangers of this forensic technology.

Biological Specimen Banks↗

PubMed1992

Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications.

Restriction fragment length polymorphisms (RFLP) analysis using the Southern blot technique can be used to recognize copy number variation of variable number of tandem repeats (VNTR) of conserved core sequences at several regions of the human genome. This new class of polymorphisms reveals a high degree of genetic variation, useful for individual identification purposes. Criticisms against forensic applications of such DNA typing data include the limitation of employing Hardy-Weinberg expectation of genotype frequencies, since several surveys indicate apparent deficiency of heterozygosity (or excess homozygosity) in comparison with Hardy-Weinberg expectations. This research postulates an alternative explanation of deficiency of apparent heterozygosity which is caused by the inability to detect extremely small-sized alleles (called 'non-detectable' alleles) due to the sensitivity of Southern gel electrophoresis. We show that the presence of 'non-detectable' alleles can produce pseudo-homozygosity and their frequencies can be predicted from the observed proportional heterozygote deficiency. Furthermore, in the covert presence of such 'non-detectable' alleles, we show that the gene-count method provides over-estimates of allele frequencies in the sample population, and hence the Hardy-Weinberg predictions of genotype frequencies avoid wrongful bias against suspects in forensic applications of DNA typing data. Applications of this theory to population data on six VNTR loci in US Caucasians and US Blacks suggest that the presence of 'non-detectable' alleles could be the major cause of apparent heterozygote deficiency, and the current approaches of predicting the population frequency of specific DNA phenotypes are practically free of the possible wrongful bias in courtroom applications of DNA typing data.

Alleles↗

PubMed2006

Genetic encapsulation among Near Eastern populations.

This report aims to genetically characterize the relationships between geographically targeted human populations covering an expanse from east sub-Saharan Africa northeastward into northern India with an emphasis on the Near East. A number of parameters of population genetics interest were examined based on allele frequencies from 15 forensic autosomal STR markers [D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA]. The phylogenetic analyses generated from genetic profiles of 885 individuals indicate that populations west of and including Iran have experienced substantial gene flow. Accordingly, our findings delineate a region of genetic homogeneity concentrated within the Near East with increasing genetic differentiation moving south into Africa and further east into Asia. We suggest that the Saharan desert, the Hindu Kush mountain range and perhaps to a lesser extent, the deserts of Iran may have acted as southern, eastern and northern geographical barriers, respectively, forming a genetic enclosure that allows limited gene flow outside the Near East. The biparental genetic landscape supports a picture of close contact between the Arab and Persian populations, perhaps beginning during the initial settlement of Asia from Africa extending to recent times.

Asian People↗

PubMed1988

DNA typing from single hairs.

The characterization of genetic variation at the DNA level has generated significant advances in gene and disease mapping, and in the forensic identification of individuals. The most common method of DNA analysis, that of restriction fragment length polymorphism (RFLP), requires microgram amounts of relatively undegraded DNA for multi-locus typing, and hundreds of nanograms for single-locus comparisons. Such DNA frequently cannot be obtained from forensic samples such as single hairs and blood stains, or from anthropological, genetic or zoological samples collected in the field. To detect polymorphic DNA sequences from single human hairs, we have used the polymerase chain reaction (PCR), in which specific short regions of a gene can be greatly amplified in vitro from as little as a single molecule of DNA. We have detected genetically variable mitochondrial and nuclear DNA sequences from the root region of shed, as well as freshly-plucked, single hairs; mitochondrial DNA (mtDNA) sequences have been detected in a sample from a single hair shaft. We have used three different means of DNA typing on these samples: the determination of amplified DNA fragment length differences, hybridization with allele-specific oligonucleotide probes, and direct DNA sequencing.

Alleles↗

PubMed1992

FBI's case for genetics.

Explore the source record for details and available documents.

DNA Fingerprinting↗

PubMedDate not supplied

[Analysis of various classical genetic markers in the Costa Rica population].

A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2,196 unrelated Costa Rican individuals of both sexes. Data was classified and analyzed according to geographic regions. Gene frequencies and the goodness of fit to Hardy-Weinberg equilibrium were estimated by the maximum likelihood method. A geographic structuring was observed in the Costa Rican population. All the regions of Costa Rica show higher heterozigosity values than the ones observed in the indigenous Costa Rican groups, but similar or slightly higher than the ones observed in the Spanish populations. The genetic distance analysis evidenced that the regions of Costa Rica group close to each other in intermediate positions between the Amerindians and the Spanish, fact that is coherent with the statement that attributes a intermediate origin to the general population of Costa Rica. The data contradicts the idea that the Central region has a radically different population than the rest of the country. The outcome of these markers revealed poor values of exclusion probability in forensic and paternity cases, which confirms the importance of their replacement for DNA markers in the outlines of human identification of judicial investigation systems. These results are similar to other studies made in Latin American populations.

Adult↗

PubMed1993

A study of the genetic polymorphism of human inter-alpha-trypsin-inhibitor (ITI) in the Han population, Chengdu, China.

Phenotypes of inter-alpha-trypsin-inhibitor (ITI) have been determined by isoelectric focusing on polyacrylamide gels followed by immunofixation. The phenotype frequencies of ITI in the Han population in Chengdu, P.R. China have been investigated using this method. In addition, family studies have been conducted in 21 families. The results show that ITI is polymorphic in the Han population in Chengdu, China. The allele frequencies are as follows: ITI*1 = 0.5763. ITI*2 = 0.4107, ITI*3 = 0.0130. ITI is thus a new and promising genetic marker that can be used in the field of forensic haematogenetics.

Alpha-Globulins↗

PubMed1994

DNA analysis in forensics, disease and animal/plant identification.

During 1993, significant advances have been achieved in applications of DNA analysis to forensic science, disease assessment, and animal/plant identification. These advances include the development of simple and high sample-throughput techniques for highly informative personal identification, rapid screening for pathogens and the development of polymorphic genetic markers in plants and animals.

Animals↗

PubMed1995

PCR-VNTRs (PCR-Variable Number of Tandem Repeats) in forensic science.

PCR-VNTRs are important markers for the individualization in forensic science. Before their use in routine case work extensive validation studies such as population genetics, mutation rates and experimental sensitivity studies have to be carried out. Different applications of PCR-VNTRs in stain analysis, even with difficult stain material such as hair shafts and only a few sperm cells are demonstrated. The different extent of sequence heterogeneity in STR systems was verified by Taq-cycle-sequencing. STRs can be divided into systems with a constant (HumTH01), variable (HumVWA) and highly variable (HumACTBP2) sequence structure. As a consequence some STR systems are not only characterized by their length polymorphism, but also by a highly variable sequence polymorphism.

Alleles↗

PubMed2005

Selection of twenty-four highly informative SNP markers for human identification and paternity analysis in Koreans.

A number of DNA marker types suitable for human identification and parentage testing have been developed, of which single nucleotide polymorphisms (SNPs) merit attention as they are abundant, genetically stable, and amenable to high-throughput automated analysis. In this regard, 24 highly informative SNP markers representing each 22 autosome and both sex chromosomes were selected, and the allele and genotype frequencies of these SNPs were determined in a group composed of 30 unrelated Koreans. Based on frequency data from this group, the estimated probability of identity (P(I)) and probability of paternity exclusion (P(E)) with 22 autosomal SNP loci were 1.905x10(-10) and 98.9%, respectively. The SNPs in this study offer a small but highly accurate database that will be an essential reference for SNP-based forensic application in the future.

Asian People↗

PubMed2000

Population genetics of nine STR loci in two populations from Brazil.

The Short Tandem Repeats (STRs) D3S1358, HUMvWA31/A, HUMFIBRA/FGA, D8S 1179, D2S11, D18S51, D5S818, D13S317, and D7S820 were studied in two Brazilian populations (from Amazonia and S. Paulo) using the "AmpF1 STR Profiler Plus PCR Amplification Kit." The nine loci showed a combined discrimination power greater than 0.9999999999 and a chance of exclusion of 0.9999.

Brazil↗

PubMed2004

[Genetic polymorphism of two STR loci D2S1399 and D5S2500 in Eastern Chinese Han population].

OBJECTIVE: To obtain the genetic polymorphism data of two STR loci D2S1399 and D5S2500 in Eastern Chinese Han population. METHODS: Blood samples or buccal swabs of unrelated Han individuals living in eastern China were analyzed using PCR-nature polyacrylamide gel electrophoresis-sliver staining method. RESULTS: 11 alleles of D2S1399 and 9 alleles of D5S2500 were observed in the samples respectively, the observed heterozygosity (Ho) values, the discrimination power (DP) values and the power of exclusion (PE) values of D2S1399 and D5S2500 is 0.745 and 0.807, 0.958 and 0.917, 0.554 and 0.643, respectively. CONCLUSION: The result showed that D2S1399 and D5S2500 were highly informative loci and suitable for forensic application.

Alleles↗

PubMed2004

[Genetic polymorphisms of STR loci THO1, TPOX, CSF1PO in Guizhou Han population].

To understand the genetic polymorphism at THO1, TPOX, CSF1PO STR loci for Han population in Guizhou Province, and construct a preliminary database, EDTA-blood specimens were collected from the 110 unrelated individuals in Han population from Guizhou. The DNA samples were extracted with Chelex method and amplified by multiplex polymerase chain reaction. The PAGE was used to type the PCR products. The allele frequencies were compared with other Han populations. The genotype distributions of THO1, TPOX and CSF1PO were in accordance with Hardy-Weinberg equilibrium. The combined PD and PE were 0.9986 and 0.832 respectively. All of the three loci in this study provide useful marker for forensic paternity test and individual identification.

Alleles↗