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S Rand

Publications and source records attributed to S Rand.

At least 19 recordsLinked to original sources

Report of the European DNA Profiling Group (EDNAP)--an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D12S391 and D1S1656.

This paper describes the results of three collaborative exercises which continues the EDNAP theme to explore whether uniformity of DNA profiling results could be achieved between European laboratories using STRs. In an earlier exercise, complex hypervariable AAAG-repeat STR loci were investigated, but reproducibility was found to be poor because of the variation of techniques used by participating laboratories. In the exercise reported here, an internal allelic ladder composed of ACTBP2 and D11S554 fragments was distributed. This ladder was used to size ACTBP2 analysed by a "singleplex" PCR amplification and D11S554 combined with APOAI1 in a separate "duplex" reaction. Laboratories were asked to test 7 blood stains, one of which was a known control, and to report the results to the co-ordinating laboratory. The exercise demonstrated that ACTBP2 showed good reproducibility between laboratories, whereas further testing would be needed to validate APOAI1 and D11S554 for interlaboratory comparisons. In separate exercises, the simple loci D12S391 and D1S1656 were tested; both of these showed excellent reproducibility between laboratories.

Alleles

ACTBP2-nomenclature recommendations of GEDNAP.

A system of nomenclature is proposed for the complex STR system ACTBP2 (SE33) in order to facilitate data exchange between laboratories. The nomenclature conforms to the ISFH recommendations as far as it is possible for such complex systems. A blind trial was carried out between up to 20 laboratories to ascertain the reproducibility of the nomenclature under working conditions. The population studies carried out have established that there are minimal regional differences in the allele frequencies and that the system of nomenclature is robust.

Actins

DNA recommendations 1997 of the International Society for Forensic Genetics.

The DNA commission of the International Society for Forensic Haemogenetics (ISFH) has over the years published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to problems of identification. This latest report provides recommendations relating to the nomenclature of short tandem repeat system (STR) typing systems which are at the forefront of systems used at present by forensic scientists and are likely to remain so for the immediate future.

Alleles

Report of the European DNA profiling group (EDNAP): an investigation of the complex STR loci D21S11 and HUMFIBRA (FGA).

This paper describes a collaborative exercise which was intended to demonstrate whether uniformity of DNA profiling results could be achieved between European laboratories using two complex short tandem repeat (STR) loci. The loci D21S11 and HUMFIBRA (FGA) were chosen because they are commonly used by different European laboratories. D21S11 has approximately 14 common alleles (f > 0.001), whereas HUMFIBRA has 19 common alleles. Laboratories were asked to test seven blood stains, one of which was a known control, and to report the results to the coordinating laboratory. The exercise demonstrated that complex STRs were amenable to standardisation.

Alleles

Genetic variation at five STR loci in subpopulations living in Turkey.

Five short tandem repeat (STR) systems HumVWA, HumTH01, HumCD4, HumF13B and HumFES were investigated in 2 subpopulations living in Turkey (Laz Turks and Kurds). The population genetic data were compared to a Turkish population sample from the Adana area. A closer genetic relationship was found to the Laz Turks than to the Kurdish sample which was also confirmed by phylogenetic tree reconstruction with seven populations from three major ethnic groups (Caucasian, Asian and African). In contrast to the Laz and Adana populations the Kurdish sample showed relatively low heterozygosity values and deviations from Hardy-Weinberg equilibrium in four of the five systems.

Alleles

Definitions of genital ulcer disease and variation in risk for prevalent human immunodeficiency virus infection.

OBJECTIVES: Although genital ulcer disease (GUD) has been associated with human immunodeficiency virus (HIV) infection in a number of studies, definitions of genital ulceration have varied. The authors hypothesized that the association of GUD with prevalent HIV infection may vary according to the definition of GUD that is used. METHODS: As part of a prospective cohort study, 863 patients were interviewed and examined who presented to a sexually transmitted disease (STD) clinic for new symptom evaluation and who agreed to HIV testing to determine demographic and behavioral risk associated with prevalent HIV infection. To determine the association between GUD and prevalent HIV, the following definitions of GUD were used: observed ulcers, history of syphilis, serologic evidence of syphilis, observed culture-proven genital herpes, and serologic evidence of herpes simplex virus type II (HSV-2) infection. RESULTS: Of 481 men and 382 women enrolled, prevalent HIV infection was detected in 12.5% and 5.2%, respectively. In multivariate analyses controlling for known HIV risk behaviors, prevalent HIV infection was associated with observed GUD (odds ratio [OR] = 2.0, 95% confidence intervals (CI) = 1.0-3.9), a history of syphilis (OR = 6.0, CI = 2.8-12.7), and serologic evidence of syphilis (OR = 3.7, CI = 1.9-7.0), but not with serologic evidence of HSV-2 (OR = 1.2, CI = 0.7-2.1), nor with observed HSV-2 culture-positive genital ulcerations (OR = 1.0, CI = 0.4-4.2). Factors contributing to different strengths of association between HIV infection and a history of syphilis or serologic evidence of syphilis included the presence of underdiagnosed syphilis infection in people with reactive serologic tests and the absence of serologic reactivity in people with a positive history. CONCLUSIONS: Although GUD is strongly associated with prevalent HIV, the strength of the association depends on the definition of GUD used. For accurate evaluation of people at risk for HIV, clinicians and researchers should use multiple definitions of GUD.

Adolescent

Report on the third EDNAP collaborative STR exercise. European DNA Profiling Group.

This report describes an inter-laboratory exercise completed on behalf of the European DNA Profiling (EDNAP) group. The exercise is one in a series designated to identify STR loci which could be used for harmonisation between participating European forensic science laboratories. Participants were asked to identify the alleles present in five bloodstains at the STR loci HUMTHO1 and HUMVWFA31/A. Two of the stains were prepared from mixtures of two different blood samples. There were no special instructions and each laboratory was requested to use the methodology normally employed for crime case investigations. All participating laboratories achieved the same results for both loci. In addition, the laboratories were also requested to report the results obtained from any other loci which would normally be used in crime case investigations. A comparison of these results showed some inter-laboratory variation.

Alleles

Ethnic differences in the expression of blood group antigens in the salivary gland secretory cells from German and Japanese non-secretor individuals.

Type 1 ABO blood group antigens (peripheral core structure: Gal beta 1-3GlcNAc beta 1-R) are expressed mainly in endodermally-derived tissues, but are not synthesized in mesodermally-derived tissues. In the former tissues, H type 1 antigen is generated largely by alpha-2-L-fucosyltransferase encoded by secretor (Se) gene and acting on the terminal galactose of the type 1 precursor chain. This theory has been generally accepted, and it seems that the expression of ABO blood group antigens is absent, or expressed at a low level, in these tissues from non-secretor individuals. In this immunohistochemical study on the secretory cells of salivary glands, we found ethnic difference between German and Japanese non-secretor individuals in the expression of blood group antigens: i.e. the expression of the type 1 blood group antigens is present in these cells from Japanese non-secretor individuals but absent from German. A possible explanation is that another alpha-2-L-fucosyltransferase, independent of the secretor gene, is present in Japanese non-secretor individuals.

ABO Blood-Group System

A highly variable STR at the D12S391 locus.

A total of 103 fragments in the STR D12S391 locus were sequenced. 24 different alleles were found which can be grouped into 12 allelic classes based on the total number of repeats. The structure of this compound STR consists of blocks of (AGAT) and (AGAC) repeats with a consensus structure (AGAT)8-17 (AGAC)6-10 (AGAT)0-1. Whereas shorter alleles only have (AGAT) repeats, > 225 bp alleles are more complex, having two motifs (AGAT) and (AGAC). Population data showed that this to be a highly polymorphic STR with a heterozygosity of 0.9. This fact together with its simple structure make this STR very suitable for forensic and genetic purposes.

Alleles

High-resolution vertical PAGE: an alternative electrophoretic system with multiple forensic applications.

DNA profiling based on PCR technology has become a powerful tool in forensic casework, as it enables specific amplification of polymorphic VNTR loci from very small quantities or even degraded human DNA. Genetic typing of AmpFLP or STR loci may require electrophoretic separation techniques usually achieved by sequencing gels. In this report we present a non-denaturing high-resolution vertical PAGE system which can be easily used for both VNTR subgroups. The system has been evaluated for single- and multiplex use in routine casework and has been shown to be rapid, sensitivite and reproducible.

Alleles

Serological findings and efficiency of DNA profiling in transfused patients and their significance for identity and paternity tests.

The problems of testing patients or the deceased using classical blood group systems for identity or paternity purposes after multiple transfusions are well known. In a paternity case where the putative father received multiple transfusions it was possible to determine some classical blood group systems. The investigation showed no incompatibility between the putative father and the child and led to a probability of paternity of 72.33%. Using the DNA technique (single locus probes) it could be demonstrated that the DNA patterns were not influenced by the transfusion and the possibility of paternity reached 99.9%. For a further consideration of this problem classical blood group systems and DNA systems were investigated in 12 patients before and after multiple transfusions. It was possible to determine the changes due to transfusion in the classical systems but changes in the DNA pattern were not observed.

Blood Grouping and Crossmatching