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At least 649 records · Page 36Linked to original sources
PubMed2002

Allele frequencies for STR loci of the Powerplex 16 multiplex system in five endogamous populations of India.

Allele frequencies for the 15 STR locus of PowerPlex 16 were analyzed in 95 healthy unrelated individuals belonging to five important population groups inhabiting different part of India. Fifteen loci studied are Penta E, D18S51, D21S11, THO1,D3S1358, FGA, TPOX, D8S1179, vWA, Amelogenin, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818. In addition of all tetra nucleotide loci, two penta nucleotide loci Penta D and Penta E of the studied system are also found highly polymorphic in all the five studied populations of India. These loci are found highly informative in solving paternity cases and other forensic testing in studied population.

Alleles↗
PubMed2002

Distribution of alleles of 15 STR loci of the Powerplex 16 Multiplex system in four predominant population groups of South India.

Allele distribution of the 15 STR loci of Powerplex 16 Multiplex System were studied in four predominant population groups of South India for evaluating their significance in human identification and population study: Iyengar Brahmin (65), Gowda (59), Lingayat (98) and Muslim (45) from the state of Karnataka. The loci analyzed are--D3S1358, THOI, D2ISI I, D18S51, D5S818, Penta E, D13S317, D7S820, D16S539, CSFIPO, Penta D, vWA, D8S179, TPOX and FGA. Out of 15 STR loci Penta D and D18S51 were found highly polymorphic in the studied populations.

Alleles↗
PubMed2002

Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region.

Human mitochondrial DNA (mtDNA) analysis is a valuable forensic tool, useful in cases where the amount of extracted DNA is low or highly degraded. Population databases are used to determine the relative rarity of a particular profile obtained in a forensic case. Rather than full DNA sequence information, sequence profiles are compared to a reference sequence, and the differences from the reference are recorded in forensic databases. A standard method is proposed for characterizing length variants, and examples are described using actual human control region mtDNA profiles. Consistency in alignment and nomenclature avoids inadvertently describing two sequences as different when in fact they are the same.

Base Sequence↗
PubMed2002

Forensic value of 14 novel STRs on the human Y chromosome.

We identified and characterized 14 novel short-tandem-repeats (STRs) on the Y chromosome and typed them in two samples, a globally diverse panel of 73 cell lines, and 148 individuals from a European-American population. These Y-STRs include eight tetranucleotide repeats (DYS449, DYS453, DYS454, DYS455, DYS456, DYS458, DYS459, and DYS464), five pentanucleotide repeats (DYS446, DYS447, DYS450, DYS452, and DYS463), and one hexanucleotide repeat (DYS448). Sequence data were obtained to designate a repeat number nomenclature. The gene diversities of an additional 22 Y-STRs, including the most commonly used in forensic databases, were directly compared in the cell line DNAs. Six of the 10 most polymorphic markers include the newly identified Y-STRs. Furthermore, these novel Y-STRs greatly improved the resolution of paternal lineages, above the level obtained with commonly used Y-STRs, in the European-American population.

Alleles↗
PubMed2002

Bounding the number of contributors to mixed DNA stains.

We derive a simple inequality for the probability of observing a given DNA profile when assuming a fixed number of unknown persons have contributed to the mixed stain. We then show how this inequality can be used to obtain an upper bound for the number of unknown contributors needed to be considered.

Alleles↗
PubMed2003

Population data of nine STRs of Mexican-Mestizos from Mexico City.

One hundred and thirteen individuals were PCR-typed for nine STR loci with the AmpFlSTR Profiler Plus PCR amplification kit, including the following autosomal STRs: D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. Allele frequencies for each STR were estimated, and they were compared to other populations. Genotype distribution by locus and by two-loci combination was in agreement with Hardy-Weinberg expectations for all nine STRs. For this region of Mexico, the combined probability of exclusion (PE) and power of discrimination (PD) were estimated: PE=99.964% and PD>99.999%.

Alleles↗
PubMed2003

The identification of a dismembered human body: a multidisciplinary approach.

A criminal case was directed to a multidisciplinary forensic team for identification, concerning a victim whose head, having two gunshot wounds, had been separated by a sharp instrument and was recovered 6 months later. The purpose of this research was to determine the sex and age of the victim for human identification. Primarily, macroscopic examination of the skull, tooth, and DNA analysis was conducted for sex determination. A rough assessment of age was made from the skull based on anthropological findings, however a more definitive result of age estimation was determined utilizing dental morphology. The dental data showed an age range of 32-37 from the mineral examination and the formulation of microscopic measurements. The results obtained from the skull and dental analysis matched with the physical characteristics of the victim's body, the known personal data of this person, and with the superposition of the photos gathered by a formal request. Besides, the result of DNA profiling of the victim showed male gender and direct relationship with the victim's presumed wife and daughter. Generally, research on human identification consists of sex and age determination. The sex characteristics can be precisely proved from DNA tests. However, age can be estimated by skeletal, and dental analysis. In this case the performed sex and age analysis lead the research to the selective matching of the missing person's identity.

Adult↗
PubMed1996

Distribution of HLA DQ A1 alleles and genotypes in two Spanish populations (Aragon and Asturias).

HLA DQ A1 is probably one of the PCR-based genetic marker systems most widely used in actual forensic casework analyses. As accurate data about the distribution of the alleles is one of the most important prerequisites for the application in forensic biology, we studied the allele distribution in two relevant Spanish populations (Aragonese and Asturian). Results were in good agreement with the Hardy-Weinberg law in both Aragonese and Asturian populations. The power of discrimination was 0.92 in the Aragonese and 0.93 in Asturian sample. A test for homogeneity of the HLA DQ A1 population data based on alelle frequency counts for 12 European samples was performed and no significant differences were found (P = 0.831).

Alleles↗
PubMed1997

Additional variability at the D12S391 STR locus in an Austrian population sample: sequencing data and allele distribution.

The highly polymorphic STR locus D12S391 was investigated in an Austrian population sample (N = 150) by PCR-amplification, comparative detection on native and denaturing polyacrylamide gels and solid phase single stranded sequencing of three size variant alleles and several additional alleles. A total of 15 alleles, distinguishable by size under denaturing conditions, could be detected. No deviations from Hardy-Weinberg equilibrium were observed in the population investigated (P = 0.52). Sequencing of size variants designated 17.3 and 18.3 showed an incomplete (GAT) repeat unit at position two of the tandem region. Additional new sequence variants due to varying compositions of the number of (AGAT) and (AGAC) repeats could be identified. Due to distinct electrophoretical mobilities of alleles of the same size but different sequence structures, denaturing detection conditions should be employed when the aim is standardization.

Alleles↗
PubMed1998

Analysis and interpretation of mixed forensic stains using DNA STR profiling.

The use of multiplex PCR and fluorescent dye technology in the automated detection and analysis of short tandem repeat loci provides not only qualitative information about the profile--i.e. which alleles are present--but can also provide quantitative information on the relative intensities of the bands, and is therefore a measure of the amount of amplified DNA. The availability of this quantitative information allows for the interpretation of mixtures in a detailed way which has not been previously possible with many other human identification systems. In this paper we present a simple approach to the resolution and analysis of mixed STR profiles resulting from the testing of mixed biological stains in forensic casework and highlight factors which can affect it. This approach requires a detailed knowledge--gained through a mixture of experiments and validation studies--of the behaviour of each locus within the multiplex systems described. We summarise the available data from previously published experimental work and validation studies to examine the general principles underlying this approach.

Alleles↗
PubMed1997

Subtyping of D20S85 STR alleles by single-strand conformation polymorphism (SSCP) analysis.

During a population study of STR locus D20S85, we discovered two types of sequence variations by direct sequencing of the alleles: two transitions each of G to A and A to G occur in the 5' flanking region in the individuals possessing allele 6 and some of those possessing allele 7 [1]. Using single-strand conformation polymorphism (SSCP) analysis, we were able to distinguish two subtypes of allele 7 from each other. This analysis method enables rapid screening for STR alleles of the same length with different sequences, and should find application to other complex STR loci because of the practical advantage of simplicity in comparison to sequencing.

Forensic Medicine↗
PubMed1998

Italian population data on thirteen short tandem repeat loci: HUMTH01, D21S11, D18S51, HUMVWFA31, HUMFIBRA, D8S1179, HUMTPOX, HUMCSF1PO, D16S539, D7S820, D13S317, D5S818, D3S1358.

A population study on thirteen short tandem repeat (STR) loci was performed on 223 unrelated Italian Caucasians. The DNA was amplified by PCR. Separation and detection of the amplified STR fragments was carried out by use of 377 automated system (Applied Biosystems Division/Perkin Elmer). All loci meet Hardy-Weinberg expectations, and the data show only five departures out of seventy-eight pairwise locus tests which is close to expectations of 5% (5/78 = 6.4%). When correcting for multiple tests, there is little evidence for departures from expectations between loci. The combined Power of Exclusion for the thirteen STR loci is 0.99999270. The results demonstrate that these loci will be very useful for human identification in forensic cases in Italy.

Alleles↗
PubMed1999

Population data on the D1S1656 and D12S391 STR loci in Andalusia (south Spain) and the maghreb (north Africa).

Allele and genotype frequencies for two tetrameric short tandem repeat (STR) loci were determined in two population samples, from Andalusia (S Spain; n = 127) and the Maghreb (N Africa; n = 40). After denaturing polyacrylamide gel electrophoresis, 14 alleles were identified for D12S391 and 13 alleles for D1S1656. No deviations from the Hardy-Weinberg equilibrium were detected. Some statistical parameters of forensic interest (H, PD, EC) were also calculated, and the data obtained for both populations were compared. Sequencing data of several intermediate D12S391 alleles designated 17.3, 18.3, and 19.3 are also presented.

Africa, Northern↗
PubMed1995

DNA markers in forensic medicine.

After a description of the various DNA polymorphisms which can be used in forensic medicine, the use of these markers for solving cases of disputed paternity is discussed in detail. VNTR polymorphisms detectable after amplification of the relevant loci by the PCR seem to be the best tools for paternity testing.

DNA↗
PubMedDate not supplied

The fallacy of independence testing and the use of the product rule.

Use of the product rule which implies the assumption of within and between locus independence, is still common, particularly in the United States of America. Whilst it may be considered by some to be an acceptable approximation it is not logical to suggest that independence testing somehow "validates" its use. This paper discusses the nature of this fallacy.

DNA Fingerprinting↗