Genetic variation at five STR loci (D10S2325, D13S325, D20S470, D18S51, and D19S253) in Korean population.
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DNA Fingerprinting↗
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Rationale of identification based on biological factors of the dentition.
Dental traits in the nature of form and size of fissures, cusps, and pits often reflect genetic and phylogenetic interactions in growth and development that are common to other individuals and serve a useful purpose in identification.
Asian People↗
[A study of forensic DNA databases].
OBJECTIVE: The forensic DNA databases are very important for individual identification. In order to evaluate the genetic markers used for a forensic DNA databases and the compatibility between the manual DNA typing system and the automatic DNA typing system, a testing DNA database should be constructed. Also, constructing a testing DNA database can increase our understanding of the issue for forensic DNA databases. METHODS: A total of 1000 specimens, including samples of blood, blood stains, salvia stains, semen stains, mixture stains and muscle tissues, were collected from the public security bureau of Chengdu. The DNA of each specimen was extracted by Chelex method and analyzed using Amp-FLP technique. A total of 8 STR loci, including D3S1358, D9S1118, vWA, D5S818, D16S539, D8S1179, CSF1PO and D20S161 were chosen and employed for DNA typing. Each STR locus was amplified by the polymerase chain reaction PCR and the PCR products were typed with the polyacryamide gel electrophoresis. Typing DNA was carried out by comparing with a human allele ladder. A total of 8 human allele ladders for D3S1358, D9S1118, vWA, D5S818, D16S539, D8S1179, CSF1PO and D20S161 were made in-house. Managing software of the testing DNA database was designed using Microsoft Access. RESULTS: The results of DNA typing in 1000 specimens showed that the total discrimination power of 8 STR loci was over 0.99999999. CONCLUSION: This study show that a forensic DNA database should be useful for search purpose. The total discrimination power over 0.99999999 imply that in principle there is no identical genotype at whole 8 STR loci between two persons from a population with 10000000 individuals. This means that 8 STR loci used in this study are suitable to construct forensic DNA databases in Chengdu of China. The result of DNA typing can be repeated and the data have compatibility between the manual DNA typing system and the automatic DNA typing system. The data search in our testing DNA database can be carried out using only some loci of the set of 8 STR markers. Also, the volume of our testing DNA databases could be enlarged easily. The implication from this study is that the legislation should not be negligent before establishing a forensic DNA database. This DNA database provides a model for establishing the forensic DNA databases in China.
Adolescent↗
The use of genetic markers for personal identification and the analysis of family relationships.
In 1984 a family of hypervariable sequences was discovered in human DNA which when used as DNA probes provided a sufficiently informative sampling of an individual's DNA as to uniquely identify each person (except for genetically identical twins). Termed a DNA 'fingerprint', the DNA pattern revealed by the probes said nothing about characteristics of age, sex, height, or colour but immediately met a long-unanswered need for certain definition in the establishment of identity and family relationships. DNA tests are now a key tool in forensic investigations and are rapidly gaining acceptance in courts around the world. DNA tests are also replacing conventional serology for the resolution of paternity disputes. The definition provided by the DNA tests was possibly most urgently sought by immigration families in the UK who were separated by an inability to prove their family ties. The interest from the public has been overwhelming and Cellmark Diagnostics have already completed tests on over 15,000 individuals in the UK since opening in June 1987. Media coverage has been extensive, and continues to view DNA tests as beneficial; this, coupled with its commercial potential, suggests that DNA technology is here to stay.
Consanguinity↗
Logical implications of applying the principles of population genetics to the interpretation of DNA profiling evidence.
There have been several efforts to codify the approach to interpreting DNA evidence [National Research Council, The Evaluation of Forensic DNA Evidence, National Academy Press, Washington, DC, 1996; I.W. Evett, B.S. Weir, Interpreting DNA Evidence: Statistical Genetics for Forensic Scientists Sinauer, Sunderland, MA, 1998]. Despite these efforts there are still aspects of ad hoc decision making in modern DNA interpretation. This article discusses some of the remaining areas of concern in this respect. Because of the immense discriminating power of DNA evidence it is unlikely that these concerns would contribute to a miscarriage of justice. They are more likely to lead to lengthy and wasteful debate in court, and to potential appeals. We advocate a previously developed approach to DNA evidence [Sci. Justice 39 (4) (1999) 257; B.S. Weir, in: D.J. Balding, C. Cannings, M. Bishop (Eds.), Handbook of Statistical Genetics, Wiley Series in Probability and Statistics, Wiley, New York, ISBN: 0-471-86094-8, 2001; J. R. Stat. Soc. A 158 (1) (1995) 21] that would give a more solid logical foundation and hopefully lead to sounder and less debatable testimony.
DNA Fingerprinting↗
[The genetic DNA trace in men: chromosome Y haplotypes in a Mexican population, analyzing 5 STRs].
BACKGROUND: Short tandem repeats or STRs on the non-pseudoautosomal region of the Y-chromosome are polymorphic markers used to obtain a specific male DNA profile to unravel special cases in the Legal Medicine casework. Haplotypes of Y-chromosome are constructed by analysis of many STRs. They allow solving paternity cases where the alleged father is not available, as well as forensic situations, as rape cases, where mixtures of male/female DNA are present. METHODS: Five Y-linked STRs recently informed: A4, A7.1, A7.2, A10 y C4 (White et al. 1999) were PCR-typed in 101 mexican mestizos from the Northwest of Mexico by means of native polyacrilamide gel electrophoresis and silver staining. RESULTS: Allelic frequencies were estimated for each STR. Their gene diversity ranged from 57.1% for A-4 to 74.7% for C-4. Excepting for A-4, Mexican Y-chromosome STR allele distributions displayed similarity (p > 0.05) to the previously informed population. Seventy-five different haplotypes were observed from 98 complete haplotypes obtained. The haplotype diversity and the male discriminatory capacity of this five-locus system were 99.0% and 77.5%, respectively. CONCLUSIONS: This knowledge permits to use effectively these five Y-chromosome markers in legal medicine casework in the studied population. This STR-system is a new resource of Y-chromosome polymorphism that offers a great potential to identify males and male-lineages, and can be used confidentially in paternity testing and forensic analysis in Mexican population.
Adult↗
Analysis of clinically relevant, diagnostic DNA by capillary zone and double-gradient gel slab electrophoresis.
A number of applications of capillary zone electrophoresis (CZE) in sieving liquid polymers (notably linear polyacrylamides and cellulose) for the analysis of polymerase chain reaction products of clinically relevant, diagnostic DNA, are reviewed here. The fields covered are human genetics, quantitative gene dosage, microbiology and virology, forensic medicine and therapeutic DNA (notably antisense nucleotides). Some unique, novel developments are highlighted, such as (a) non-isocratic CZE, i.e., temperature-programmed CZE for detection of DNA point mutations and (b) the synthesis of novel N-substituted acrylamides, offering extreme resistance to alkaline hydrolysis, coupled with high hydrophilicity. In the field of denaturing gradient gel electrophoresis (DGGE), as routinely performed in gel slabs, a novel methodology is described, i.e., double-gradient DGGE. In this technique, two gradients are simultaneously applied along the migration direction; a chemical denaturing gradient, for partially unwinding homo- and hetero-duplexes of DNA and a porosity gradient, for re-compacting diffuse bands melting over a broader range of denaturing conditions. Both the CZE and the slab gel methodologies, with the latest developments described in this review, appear to be promising tools for screening diagnostic DNA.
DNA↗
[DNA profile in legal practice].
This article shows the main advantages and drawbacks of the genetic analysis used by magistrates and police officers. Analyze a cellular trace on the scene of a crime, seek a paternity are some applications.
Blood Stains↗
The Japan Society of Human Genetics Award Lecture. Application of DNA markers to clinical genetics.
DNA technology using DNA sequence polymorphisms has brought a new system to the fields of medicine and forensic science, especially for the studies of genetic diseases and tumor suppressor genes, and for identification of individuals for forensic purpose. Linkage analysis based on segregation of polymorphic alleles in affected families has contributed to identification of many genetic disease. We isolated a large number of polymorphic DNA markers, called VNTR (variable number of tandem repeat) markers and identified the APC gene that is responsible for familial adenomatous polyposis (FAP) by means of a so-called "positional cloning" and characterized germline and somatic mutations of the APC gene in colorectal cancer patients. In addition, we have applied genetic information during colorectal carcinogenesis to sensitive diagnosis of lymph-node metastasis of colorectal cancer.
Adenomatous Polyposis Coli↗
Canine microsatellite polymorphisms as the resolution of an illegal animal death case in a Hungarian zoological gardens.
Several animal carcasses were found in the paddocks of a Hungarian County Zoo during 1 week. The 14 animals killed were thought to be the victims of a dogfight training. The primary suspect was the security guard of the Zoo with his guard dogs. DNA tests were carried out on hairs and bloodstains and 10 canine-specific STR loci were analysed by fluorescently labelled multiplex PCR using the ABI PRISM 310 Genetic Analyzer. The results confirmed that the killer was a single animal and all of the guard dogs were excluded.
Animal Welfare↗
A comprehensive survey of human Y-chromosomal microsatellites.
We have screened the nearly complete DNA sequence of the human Y chromosome for microsatellites (short tandem repeats) that meet the criteria of having a repeat-unit size of > or = 3 and a repeat count of > or = 8 and thus are likely to be easy to genotype accurately and to be polymorphic. Candidate loci were tested in silico for novelty and for probable Y specificity, and then they were tested experimentally to identify Y-specific loci and to assess their polymorphism. This yielded 166 useful new Y-chromosomal microsatellites, 139 of which were polymorphic, in a sample of eight diverse Y chromosomes representing eight Y-SNP haplogroups. This large sample of microsatellites, together with 28 previously known markers analyzed here--all sharing a common evolutionary history--allowed us to investigate the factors influencing their variation. For simple microsatellites, the average repeat count accounted for the highest proportion of repeat variance (approximately 34%). For complex microsatellites, the largest proportion of the variance (again, approximately 34%) was explained by the average repeat count of the longest homogeneous array, which normally is variable. In these complex microsatellites, the additional repeats outside the longest homogeneous array significantly increased the variance, but this was lower than the variance of a simple microsatellite with the same total repeat count. As a result of this work, a large number of new, highly polymorphic Y-chromosomal microsatellites are now available for population-genetic, evolutionary, genealogical, and forensic investigations.
Chromosomes, Human, Y↗
Deoxyribonuclease I (DNase I) typing from semen stains: low enzyme activity in vaginal fluids does not interfere with seminal DNase I typing from mixture stains.
We describe the use of deoxyribonuclease I (DNase I) polymorphism for individualization of semen in body fluid stain mixtures, as a means of providing new and more useful information to practicing forensic biologists as a genetic marker. We have already reported that human DNase I isozyme patterns from different subjects are classifiable into ten groups. Isoelectric focusing of DNase I isozymes on polyacrylamide gel (IEF-PAGE, pH 3.5 to 5) was accomplished using a 0.5 mm thick gel. Pretreatment of semen samples with neuraminidase enhanced the isozyme band resolution and sensitivity. Activity detection using the dried agarose film overlay (DAFO) procedure was reliable, sensitive and simple, with high resolution, and the phenotypes of DNase I were determined in semen stains of about 0.3 microL stored at room temperature for up to a year in most of the samples tested. The DNase I types in semen stains were correlated with the types found in the corresponding blood and urine samples, although most of the vaginal fluid samples had no typable DNase I activity. This is considerably advantageous for seminal individualization from body fluid mixture stains in criminal cases. An evaluation of DNase I typing by IEF-PAGE and DAFO was also performed on casework samples submitted to our laboratory, and the results showed that DNase I was expected to be one of the most useful individualization marker of semen in practical application.
Body Fluids↗
THE IDENTIFICATION OF HUMAN REMAINS.
The identification of human remains, especially if they have been mutilated or burnt, or occur in skeletal form, may pose a major problem for the forensic physician. It may involve the co-operation of coroner, police officer, forensic pathologist and forensic laboratory. It is first necessary to demonstrate that the remains are human, and that the tissue in question represents one, or more than one, body. A meticulous postmortem examination by the forensic pathologist will reveal all anatomical peculiarities for study and record. Photographs, radiographs, dental charts, fingerprints and blood type all contribute materially to the solution of the problem.
Autopsy↗
Population genetics of HPRTB, F13B, and LPL in Pernambuco, Northeast Brazil.
One hundred thirty-four unrelated Northeast Brazilian individuals were typed for the HPRTB, F13B, and LPL short tandem repeats (STRs). DNA was amplified by specific primers and identified by silver staining of polyacrylamide gels. The allelic frequencies of these loci were in agreement with Hardy-Weinberg proportions. The most frequent alleles were HPRTB*13, F13B*10, LPL*10. The combined probability of paternity and the discrimination power of these 3 STRs were high, permitting their utilization for forensic science purposes.
Brazil↗
Characterization of human lymphoid cell lines GM9947 and GM9948 as intra- and interlaboratory reference standards for DNA typing.
The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. Currently, reference DNA standards are restricted to molecular size DNA ladders and/or tumor cell line DNA. Either of these, however, presents some limitations. We have rigorously characterized two Epstein-Barr virus (EBV)-immortalized human lymphoid cell lines--GM9947 (female) and GM9948 (male)--to determine their suitability as alternative in-line standards for three widely employed allele profiling strategies. Twenty-one highly polymorphic VNTR-based allelic systems (7 RFLPs, 2 AmpFLPs, and 12 STRs) distributed over 12 chromosomes were scrutinized along with 3 gender-based discriminatory systems. The genetic stability of each locus was confirmed over a period of 225 in vitro population doublings. Allele size estimates and degree of informativeness for each of the 21 VNTR systems were compiled. The reproducibility of allele scoring by traditional RFLP analyses, using both cell lines as reference standards, was also verified by an interlaboratory validation study involving 13 analysts from two geographically distinct forensic laboratories. Taken together, our data indicate that GM9947 and GM9948 genomic DNAs could be adopted as reliable reference standards for DNA typing.
Base Sequence↗
Genetic differentiation within and between four UK ethnic groups.
In previous papers [L.A. Foreman, J.A. Lambert, I.W. Evett, Regional genetic variation in Caucasians, Forensic Sci. Int. 95 (1998) 27-37; L.A. Foreman, Analyses to investigate appropriate measures of differentiation between European Caucasian populations using short tandem repeat (STR) data, FSS Research Report FSS-RR-804 (1999)], we have carried out detailed investigations of the level of regional and national variation in STR characteristics exhibited within white Caucasian populations. The studies described here extend our earlier work to the black African/Caribbean and Asian (Indo-Pakistani) populations of the UK, routinely considered in casework calculations at the Forensic Science Service (FSS). In addition, estimation of allele distributions and database comparisons are carried out for two further populations, i.e. those classified as containing individuals of Oriental and Arabic appearance.
Asia↗
Mitochondrial DNA of ancient Cumanians: culturally Asian steppe nomadic immigrants with substantially more western Eurasian mitochondrial DNA lineages.
The Cumanians were originally Asian pastoral nomads who in the 13th century migrated to Hungary. We have examined mitochondrial DNA from members of the earliest Cumanian population in Hungary from two archeologically well-documented excavations and from 74 modern Hungarians from different rural locations in Hungary. Haplogroups were defined based on HVS I sequences and examinations of haplogroup-associated polymorphic sites of the protein coding region and of HVS II. To exclude contamination, some ancient DNA samples were cloned. A database was created from previously published mtDNA HVS I sequences (representing 2,615 individuals from different Asian and European populations) and 74 modem Hungarian sequences from the present study. This database was used to determine the relationships between the ancient Cumanians, modern Hungarians, and Eurasian populations and to estimate the genetic distances between these populations. We attempted to deduce the genetic trace of the migration of Cumanians. This study is the first ancient DNA characterization of an eastern pastoral nomad population that migrated into Europe. The results indicate that, while still possessing a Central Asian steppe culture, the Cumanians received a large admixture of maternal genes from more westerly populations before arriving in Hungary. A similar dilution of genetic, but not cultural, factors may have accompanied the settlement of other Asian nomads in Europe.
Asian People↗
Reproduction, genetics and the law.
Both reproductive medicine and genetics are seeing rapid, and in some instances revolutionary, medical and scientific advances. Courts have been called upon to resolve a variety of novel disputes arising from these areas, and more can be anticipated as these technologies continue to develop and their use becomes more widespread. This article discusses some of the most relevant areas of the law and litigation that currently bear on reproduction and genetics or that may be anticipated to do so in the future. Specific developments and judicial decisions addressing them include: legal theories of wrongful birth and wrongful life and their application to children born with genetic impairments; a physician's duty to warn family members about a relative's genetic disease; disputes over reproductive materials and non-reproductive cells and tissues; unauthorized genetic testing in the workplace; and genetic discrimination. It is hoped that this discussion will be of value to medical and legal professionals and policy makers who work with these concepts in the increasingly inter-related fields of law and medicine.
Abnormalities, Multiple↗