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PubMed1999

Allele frequency distribution of the STR loci HUMTPOX, HUMTH01 and HUMVWA in Asturias (north Spain).

In order to use genetic loci in forensic identity testing, some population data are needed. This paper presents a report of allele frequency data for the loci HUMTH01, HUMTPOX and HUMVWA in a population sample from Northern Spain. No deviation from the Hardy-Weinberg equilibrium was detected in any of the three markers investigated and there was no evidence of association between the alleles of these loci. Statistical analysis was also carried out to obtain some parameters of medicolegal interest and comparative studies were carried out with other populations studied to date for these five loci. The Asturian sample does not differ substantially from other Caucasian and Spanish populations.

Alleles↗
PubMed1999

First searchable database for DNA profiles of human cell lines: sequential use of fingerprint techniques for authentication.

The authenticity and freedom from cross-contaminants of a cell line are important prerequisites for any research, development or production programs involving cell lines. Mini- and microsatellites in the human genome harboring variable-numbers of tandem repeat (VNTR) DNA markers allow individualization at the DNA level and are of practical value for genetic linkage mapping, forensic legal medicine, paternity testing, monitoring of bone marrow transplants, and individualization of established cell lines. We have validated fingerprint techniques of different single- and multiple-locus VNTRs enabling the establishment of a searchable database of DNA profiles. As a result, multiplexed polymerase chain reaction amplification fragment length polymorphism (AmpFLP) of four prominent and highly polymorphic minisatellite VNTR loci was proven as the best tool for screening the uniqueness of DNA profiles in a fingerprint database. In order to avoid false positivity, identical or similar DNA profiles based on AmpFLP VNTR were tested further using a multi-locus fingerprint system. Our data demonstrate that misidentification remains a chronic problem among human continuous cell lines (detailed information at URL http://www.dsmz.de). The combination of rapidly generated DNA profiles based on single-locus VNTR loci, their authentication by screening the fingerprint database, and confirmation of duplicate banding patterns using multilocus fingerprints constitute a highly reliable and robust method, which enables high fidelity and quality of maintenance independent from the quantity of individual cell lines.

Cell Line↗
PubMed2001

Tibetan population data on the multiplex short tandem repeat loci--D16S539, D7S820, and D13S317.

The multiplex amplification system of three tetrameric short tandem repeats loci (D16S539, D7S820, and D13S317) have been analysed extensively in various populations for forensic application. Population genetic studies were carried out for these three loci in a population sample of 129 unrelated Tibetan individuals by using a multiplex polymerase chain reaction (PCR) followed by 4% polyacrylamide gel electrophoresis (PAGE) and silver staining. All loci were in accordance with the Hardy-Weinberg expectations. The observed heterozygosities of three loci-D16S539, D7S820, and D13S317 were 73.3%, 81.4% and 80.6%, respectively. The polymorphism information contents (PIC) were 0.84, 0.80 and 0.83, respectively. Comparing with Han population, there was no statistically significant difference except for D16S539 locus.

Chromosome Mapping↗
PubMed1992

Polymerase chain reaction: relevance for oral pathology.

The polymerase chain reaction (PCR) is a recent innovation in biotechnology for amplifying specific nucleic acid sequences by use of repeated cycles of DNA synthesis. Application of PCR has been extended to a wide variety of biological and medical disciplines; fields of application include molecular genetics, pathology, microbiology, forensic medicine, and infectious diseases. Because of its speed and powerful sensitivity, PCR has become a highly valuable method for detecting small amounts of target nucleic acid sequence with the caveat that it has certain limitations. Importantly, false-positive reactions can result from the amplification of contaminating DNA whereas false-negative reactions can result from introduction of inadequate numbers of primer sequences. The application of PCR in the context of oral pathology is presented along with a discussion of the utility of this technique to aid in the elucidation of the etiology of oral disease.

DNA↗
PubMed2002

[Genetic polymorphism of 9 STR loci in Chaoxian National Minority of China].

In order to enrich the Chinese genetic database,nine polymorphic loci of STR,such as D3S1358,vWA,FGA,TH01,TPOX,CSF1PO,D5S818,D13S317 and D7S820 were studied. Based on STR gene scan marked by fluorescence,91 unrelated Chinese Chaoxian individuals were observed.81 alleles and 196 genotypes were found. The corresponding gene frequency and genotype frequency were 0.0055-0.4615 and 0.0110-0.9890 respectively. The genogypes frequency of nine STR loci was good with the Hardy-Weinberg equilibrium (P approximately 0.05). The statistical analysis of nine STR loci showed the following: PIC (polymorphic information content) >or=0.6863, H (heterozygosity) >or=0.6919, DP (discrimination power) >or=0.8301, EPP (probability of paternity exclusion) >or=0.8590. The data studied can be used in Chinese population genetic studies and forensic medicine applications.

English Abstract↗
PubMed2002

[Genetic polymorphisms of 9 STR loci in Dongxiang ethnic group of China].

Genetic distribution for nine STR loci was determined in a Chinese Dongxing ethnic group based on STR genescan marked by fluorescence. Seventy-two alleles and 182 genotypes were observed in 94 unrelated Chinese Dongxiang individuals,with the corresponding gene frequency and genotype frequency being 0.0053-0.5825 and 0.0106-0.2660 respectively. The genotypes of nine STR loci were in accordance with the Hardy-Weinberg equilibrium (P>0.05). The statistical analysis of nine STR loci showed PIC (polymorphism information content, PIC) = or > 0.6378, H(heterozygosity, H) = or > 0.6500, DP (discrimination power, DP) = or > 0.8216, PPE (probabilities of paternity exculation, PPE) = or > 0.4903. The result indicated that there was a significant difference between Dongxiang ethnic group and the white and the black. There was no significant difference in Han nationality. These result filled the Dongxiang ethnic group-a specific group of Chinese into the genetic database and played an important role in Chinese population genetic study and forensic medicine application.

English Abstract↗
PubMed2006

[Distribution of HLA-A, -B allele and haplotype polymorphism in the Tu nationality of Hubei province in China].

OBJECTIVE: To investigate the genetic diversity in Chinese populations. And HLA-A, -B alleles and haplotypes of 190 unrelated healthy individuals of Tu nationality from Wufeng county Hubei province were identified for the associated studies of HLA gene polymorphism and disease. METHODS: The high-resolution typing methods--sequence-based typing(SBT) was used to define the most polymorphism of exons 2 and 3 of the HLA-A, -B locus alleles. The allele and haplotype frequencies were calculated by maximum likelihood estimation with Arlequin software. RESULTS: HLA-A, -B alleles were found to be in Hardy-Weinberg equilibrium(P>0.05). A total of 26 HLA-A and 41 HLA-B alleles were detected. The most frequent alleles were A*0201(0.16053), A*110101(0.14737), A*24020101(0.14211), B*4001(0.14737), B*4601(0.13947), followed by A*0207(0.08947), A*0206(0.08158), B*1301(0.07632), B*5801(0.08947), B*1501(0.09737). The frequencies of following alleles to be A*330301(0.05526), B*1502(0.05526), B*3501(0.05263) were all higher than 0.05. The extensive HLA-A-B haplotypes were observed, and the most common haplotypes were A*0202-B*4001(0.04196), A*0201-B*4601(0.03625). CONCLUSION: In the present study, we first analyzed the HLA-A, B gene typing with SBT, all of these results will be the basic and reference data for Tu race, and also will have the applications available to trace the population migration, clinical organ transplantation, disease-associated study, HLA genetic feature and forensic identification.

Alleles↗
PubMedDate not supplied

DNA fingerprinting: a versatile technology.

DNA fingerprinting originally developed as a genetic mapping strategy but has quickly found many other applications ranging from forensic casework to wildlife conservation. The versatility of various DNA fingerprinting methods is illustrated by a series of examples taken from the work of one laboratory in New Zealand.

Animals↗
PubMed1997

[DNA genotyposcoy in determining paternity: use of hybridized probes].

Analysis of hybridization probes for DNA genotypescopy (DNA genotyping and genome fingerprinting) was performed to detect 21 cases of paternity testing. A system with the highly informative multilocus DNA probe Red4, isolated by us earlier, and two single-locus probes (YNH24 and CMM101) detecting highly polymorphic (H > 96%) loci D2S44 and D14S13 was tested. In the cases analyzed, the Red probe was shown to detect, on average, 19.28 +/- 3.6 polymorphic BsuRI fragments in the DNA profile of presumable fathers and 19.67 +/- 5.84 BsuRI fragments in the DNA profile of mothers. The average number of DNA fragments inherited by a child from either parent was approximately equal (8.72 +/- 3.77 and 7.11 +/- 2.66, respectively). The low population frequency of DNA fragments detected by the Red4 probe allowed highly effective positive paternity identification to be performed. Paternity was established in 86% (with probability > 99.75 or > 99.99%) and excluded in 14% of expertises. Single-locus probes YNH24 and CMM101 were used as an additional criterion in cases when, in the DNA profile of a child, a single band (probable de novo mutation) or several bands (probable false paternity or maternity) were revealed but absent in both presumable parents. In once case, a de novo mutation for the YNH24 probe, not described earlier, was revealed. Therefore, a combination of multilocus and single-locus hybridization probes appeared to be the most promising method for significant paternity testing in forensic and medical genetic practice.

DNA Fingerprinting↗
PubMed2026

Wildlife forensic DNA evidence links a suspected vehicle to a fatal lowland tapir (Tapirus terrestris) collision in Misiones, Argentina.

Vehicle collisions are recognized as a major driver of biodiversity loss, particularly in road-dense landscapes, exceeding the impact of invasive species and wildlife trafficking. For large-bodied, slow-reproducing, and low-abundance species, such as the lowland tapir (Tapirus terrestris), this threat can have major impacts. Here, we present a wildlife forensic investigation in Misiones, Argentina, involving a tapir, a species afforded the highest level of legal protection as a Provincial Natural Monument. The fatal hit-by-vehicle (HBV) incident occurred in northern Misiones on 31 March 2019 along Provincial Route 19, in a portion that bisects Parque Provincial Urugua-í, with the driver involved in the collision leaving the scene. The suspect was later located and claimed that the damage to the vehicle resulted from a collision with a horse (Equus caballus) rather than a tapir. To legally resolve the incident, DNA (hair and blood) recovered from the suspected vehicle's bumper (evidence) was compared with tissue samples from the tapir carcass (reference). Genetic confirmation of species identity used a 110-bp region of the mitochondrial cytochrome b gene, and individual identity was assessed using 12 species-specific microsatellite loci. These analyses confirmed that all evidence matched the tapir carcass at both species and individual levels, strongly supporting the association between the suspected vehicle and the HBV tapir, and refuting the alternative explanation proposed by the driver. This case demonstrates the value of using wildlife forensic genetics to reconstruct wildlife-vehicle collisions, supporting environmental law enforcement, and strengthening conservation efforts in the Atlantic Forest of Misiones, Argentina.

Animals↗
PubMed2002

[Primary study on genetic polymorphism and population difference of locus DYF155S1].

OBJECTIVE: To understand the genetic polymorphism and population difference of locus DYF155S1 on human Y chromosome. METHODS: Using minisatellite variant repeat mapping-polymerase chain reaction (MVR-PCR), automated fluorescence detection, DNA sequence analysis, the authors studied the locus DYF155S1 of two chimpanzee and 10 human subjects from each of the following 8 groups: Northern China Hans, Southern China Hans, the Zang (Tibetan) nationality, the Uighur nationality, Japanese, Korean, Black African, White African. RESULTS: In this study, loci DYF155S1 and DYF155S2 have been detected. There is no difference in all of the samples on the locus DYF155S2; each sample contains one type 4 repeat unit, which is the ancestor gene of locus DYF155S1. On locus DYF155S1, each individual has its specific DNA sequence. The arrangement of the repeat units differs greatly in races: arrangement 3134 in the yellow race, arrangement 134 in the white race, and arrangement null3a1a4a4 in the black race were most common. The average number of the type 4 repeat unit in the white race is much higher than that in the yellow race. The authors also found two new types of repeat unit: type 6 and type 7. Type 6 is the result of the T22A substitution on type 1, which was observed in Japanese (3 samples). Type 7 is resulted from the T22A substitution on type 3, which was observed in the Zang nationality (4 samples), Southern China Hans(1 sample), and Korean (1 sample). CONCLUSION: Locus DYF155S1 has great genetic polymorphism and obvious population difference. Its significance should receive more attention in forensic science and human genetics research.

Animals↗
PubMed1999

[DNA analysis for paternity testing and forensic identification].

Non coding DNA of human genome contains an important part of tandem repetitive DNA which last years has been extensively applied to solve paternity disputes and individual identification cases. A class of this DNA are minisatellites and microsatellites loci. Such loci are highly polimorphics because they have a multiple of different alleles to make them ideals genetic markers for these purposes. This article is a review about these loci, methods of their analysis and practical aspects about their applications to determine biological paternity or individual identification in the forensic genetic field are considered.

DNA↗
PubMed1989

A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.

In a survey of the proteins from human hair, a genetic electrophoretic variant has been observed in the high-sulfur protein region. S-carboxymethylated proteins were examined by 15% polyacrylamide gel electrophoresis at pH 8.9. Out of 150 unrelated samples of Japanese head hairs analyzed, 107 showed 6 major high-sulfur protein bands (normal) and the remaining 43 samples showed an additional high-sulfur protein band (variant). Of 21 Caucasian samples analyzed only one variant sample was found. Characterization of the proteins by two-dimensional electrophoresis evidenced a variant protein spot which showed an apparent molecular weight of 30 k Da. Isoelectric points of the high-sulfur proteins ranged from 3.25-3.55 and that of variant protein band from 3.3-3.4. Family studies of 21 matings resulting in 49 children indicated that this variant was inherited in an autosomal fashion.

Electrophoresis, Polyacrylamide Gel↗
PubMed1992

Racial identification in the context of prehistoric-historic biological continua: examples from South Asia.

The practice of 'racial palaeontology' disappeared 50 years ago with the fall of the biological race concept in systematics and population genetics. However, certain ethnic minorities claim close biological affinities with extinct (sometimes Pleistocene) populations. Forensic anthropologists may be involved in this issue through analyses of prehistoric and modern populations in circumstances where a biological continuum may exist. Skeletal evidence from South Asia is discussed.

Anthropology, Physical↗
PubMed1997

Sequence analysis of domestic dog mitochondrial DNA for forensic use.

A method has been developed for the direct sequencing of hypervariable region 1 (HV1) of domestic dog (Canis familiaris) and wolf (Canis lupus) mitochondrial DNA (mtDNA) using single hairs as template. The method uses a robotic work-station and an automated sequencer to allow for robust routine analysis. A population data base was created in order to investigate the forensic and population-genetic informativeness of domestic dog HV1. Sequence variation, partitioning of dog breeds among sequence variants and phylogenetic relations between the variants were determined. Samples from 102 domestic dogs of 52 different breeds and two captive wolves were analyzed. Nineteen dog-sequence variants were found and the frequencies of the variants ranged from 1 to 21%. The calculated discrimination power of the region, i.e., the exclusion capacity, implied that nine out of ten disputed individuals can be excluded by this analysis. The sequence variants were found to cluster into four phylogenetic groups.

Animals↗
PubMed2005

[Genetic polymorphism of DXS7423, DXS7424, DXS7132, DXS7133, DXS6804 loci on X-chromosome in Ewenke population].

OBJECTIVE: To study the genetic polymorphism of five STR loci on X-chromosome in 98 Ewenke population of China and establish the related genetic database. METHODS: The sequence variation of DXS7423, DXS7424, DXS7132, DXS7133, DXS6804 loci on X-chromosome were analyzed by PCR following PAG electrophoresis and silver staining. RESULTS: The genetic data of the 5 X-chromosome STRs in Ewenke ethnic group of China is in accordance with Hard-Weinberg equilibrium. CONCLUSION: Five X-STR loci could be used in forensic identification and population genetic research.

Chi-Square Distribution↗