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Biomedical subjects

S Rand

Publications and source records attributed to S Rand.

At least 19 recordsLinked to original sources

Population genetics and forensic efficiency data of 4 AMPFLP's.

Family studies were carried out in a population sample from north west Germany using 4 amplifiable VNTR polymorphic systems D1S80 (MCT118), ApoB, D17S30 (YNZ22) and COL2A1. Separation was carried out in polyacrylamide gels and visualised using silver staining. In family studies (n = 30) no evidence of new mutations was found. The population study of unrelated individuals (mothers and putative fathers) showed that all 4 systems were highly polymorphic and similar to other population studies. The combined exclusion chance was calculated to be approximately 99% and the combined discrimination index 1.5.10(-4). The Hardy-Weinberg equilibrium was checked by forming groups of alleles and no significant deviations could be found in all systems.

Alleles

Forensic identification of urine samples.

VNTR polymorphisms were investigated for the possible individualisation of human urine samples with reference to doping cases in sport. Investigations were carried out with the RFLP single locus system YNH24/Hinf I and the PCR-VNTR systems Apo B and COL2A1 (AMPFLPs) as well as SE 33 and TC 11 (STRs). Urine samples were tested using 3 different volumes (10 ml, 1 ml and 0.1 ml) after 2 days and 2-5 weeks storage at 4 degrees C. Positive results were obtained for STR systems in all cases and with the smallest volume of urine tested (0.1 ml). The AMPFLP systems gave positive results in 4 out of 8 (Apo B) and 5 out of 8 (COL2A1) samples and YNH24 was successful in 1 out of 3 samples. Negative results were obtained for the AMPFLP systems and YNH24 after longer storage periods whereas the STRs were positive.

DNA

ABH-related antigens in human male genital tract. A histochemical examination.

The localization of ABH related antigens in human male reproductive tract was examined using monoclonal antibodies and an avidin biotin complex method. No positive reaction with blood group antibodies on spermatozoa was observed in testis and ductus epididymidis apart from erythrocytes and endothelial cells. The expression of ABH and ABH related antigens in ductuli efferents testis, ductus epididymidis, seminal vesicle and prostate was complexly coded by a combination of H, Se, Le and X genes. The results obtained in this study indicate that the ABH antigens detected on spermatozoa of seminal stains are coating antigens and not inherent to the cell membrane, and the ABO, H, Se, Le and X genes are subjected to a tissue-dependent differential expression.

ABO Blood-Group System

Uses and limitations of spoiled gradient-refocused imaging in the evaluation of suspected intracranial tumors.

This article describes the use of a radiofrequency-spoiled gradient-recalled (SPGR) imaging pulse sequence in the evaluation of intracranial masses. This pulse sequence provides excellent anatomic detail with T1-weighted image contrast. Rapid, sequential, single-slice (two-dimensional) images of the brain can be obtained in patients who are unable to hold still for long periods of time. In addition, volumetric (three-dimensional) image data sets can be obtained that provide extremely thin (1- to 2-mm) sections of high detail and good signal-to-noise ratio for selected critical structures within the brain. Finally, because SPGR is also utilized for time-of-flight angiography, parenchymal information can be obtained simultaneously with cerebral blood vessel definition. One potential pitfall that the magnetic resonance radiologist must be aware of is the fact that, in many patients, the degree of contrast enhancement is greatly diminished on postgadolinium SPGR images compared with conventional spin-echo T1-weighted images. Comparison with a set of standard spin-echo postcontrast images or, potentially, the use of higher doses of gadolinium may solve this problem. In spite of this limitation, the selective utilization of SPGR imaging can yield additional useful information for evaluation and preoperative planning in patients with intracranial masses.

Brain Neoplasms

Problems associated with the DNA analysis of stains.

Selected stain cases are presented which highlight various problems associated with DNA investigations on stain materials, especially risks of artefacts. These cases involve stain materials (blood, semen) which were exposed to different external conditions so that the DNA was partially degraded and of variable quantity. One multi locus probe (MLP) and 4-6 single locus probes (SLP's) were used for individualisation but artefacts such as extra bands, band deficiencies or shifts only occurred with the MLP. In one case where only a few spermatozoa were present in the vaginal swab, DNA extraction was carried out without preferential lysis to avoid loss of sperm DNA. The resulting mixed band pattern could be clearly attributed to the bands from the corresponding blood samples after SLP hybridisation.

Artifacts

Population and family data of RFLP's using selected single- and multi-locus systems.

The multi-locus systems (MLS) 33.15 and 33.6 (Jeffreys et al 1985a) and the single-locus systems (SLS) MS 1, MS 8, MS 31 and MS 43 (Wong et al. 1987) were investigated. The number of bands and the rate of band sharing were determined for both multi-locus systems and compared to the results of an English survey. Additionally 73 families were investigated using the multi-locus probes and the results compared to those obtained for the traditional blood grouping systems. The results were in full agreement so that no evidence of new mutations could be found. The fragment distribution was calculated for each of the 4 single-locus systems and compared to the values reported in an English survey (Smith et al. 1990b). Distinct discrepancies were seen in the systems MS 1 and MS 8. Family analyses were carried out for the 4 single-locus systems and compared to English data (Jeffreys et al. 1988) to look for any indications of possible new mutations. Only one isolated exclusion could be demonstrated with MS 1.

Chromosome Mapping

Paternity testing--quo vadis?

The basis and efficiency of paternity testing using conventional markers (alloantigens or electrophoretically defined polymorphisms in blood) for individuals involved in cases of affiliation are shown. A possible use of DNA polymorphisms in paternity cases is discussed. Due to the fact that the formal genetics of DNA polymorphisms have not been fully validated by the analysis of large numbers of informative meioses, it is not yet possible to include these systems in routine paternity testing. As the vast majority of cases can be resolved by conventional markers, the inclusion of DNA polymorphisms is not usually necessary; in some cases, however, they can provide additional information.

DNA Fingerprinting

Difference in the ability of blood group-specific lectins and monoclonal antibodies to recognize the ABH antigens in human tissues.

Twelve different kinds of blood group-specific lectins have been used along with monoclonal anti-A, -B and -H antibodies for detecting the corresponding antigens in selected human tissues. Although most of the lectins recognized the antigens in the tissue sections examined, they displayed marked differences in their recognition patterns in certain tissues. Helix asparsa agglutinin (HAA), Helix pomatia agglutinin (HPA) and monoclonal anti-A antibody recognized A antigens in the mucous cells of salivary glands from blood group A or AB nonsecretor as well as secretor individuals, whereas Dolichos biflorus agglutinin (DBA), Griffonia simplicifolia agglutinin-I (GSA-I), Sophora japonica agglutinin (SJA) and Vicia villosa agglutinin (VVA) did not bind to them from nonsecretors. A antigens in endothelial cells, lateral membrane of pancreatic acinar cells and small mucouslike cells of submandibular glands from some individuals were likewise recognized by HAA and HPA but not by other blood group A-specific lections. In contrast, both HAA and HPA did not recognize the A antigens in mucous cells of Brunner's glands while other A-specific lectins and monoclonal anti-A antibody reacted specifically with the antigens. Such a difference was not observed with lectins specific for blood group B. However, the B antigens in Brunner's glands were recognized by these lectins but not with monoclonal anti-B antibody. The difference in labelling ability was also noted among the blood group H-specific lectins and monoclonal anti-H antibody in endothelial cells of blood vessels. Ulex europaeus agglutinin-I reacted with these cells irrespective of ABO and the secretor status of the individuals, while Anguilla anguilla agglutinin and monoclonal anti-H antibody reacted only with those cells from blood group O individuals. No reaction was observed with Lotus tetragonolobus agglutinin in these tissue sites. These results suggest a great diversity of blood group antigens in different human tissues.

ABO Blood-Group System

Gc in bloodstains.

Gc-subtyping was carried out on blood stains that had been made on cotton and glass and stored under a variety of conditions ranging from -20 degrees to +56 degrees C. The limits of detection ranged from 2 weeks at 56 degrees C up to 92 weeks at +4 degrees C and greater than 116 weeks at -20 degrees C. Additional bands that have been reported in other studies could not be detected during this study, and this difference is thought to be due to storage of the samples in the liquid state.

Blood Grouping and Crossmatching

[Forensic efficiency of some highly polymorphic single locus systems].

The single locus probes MS 1, MS 8, MS 31 and MS 43 were investigated in combination with the restriction enzyme HINF I. The frequency distribution of fragment sizes detected by the polymorphic probe MS 8 was plotted for individuals from the Münster area and compared with an English survey. Clear discrepancies were found. The heterozygosity for the four systems was calculated and compared to the English figures. Only MS 8 showed a significant difference.

Alleles

[Applicability of the Jeffreys 33.15 and 33.6 multi-locus system].

A sample of 73 families which had been investigated by conventional paternity grouping was in addition subjected to DNA analysis using the multi locus systems 33.15 and 33.6. A comparison with the results of a conventional expert's opinion shows complete accordance. In cases showing exclusions in the conventional systems there were also exclusions by the multi locus systems and in cases without exclusions in the conventional systems no exclusions were found using multi locus probes. New mutations were not observed. In stain cases the resulting band patterns were often partially deficient. The problems in assigning such patterns with those observed in fresh samples are discussed.

Autoradiography

[Immunochemical and chromatographic determination of ABH antigens in compact bone tissue].

The identification of ABH antigens from compact bone tissue is known from many sources. The purpose of this study was to make a contribution to the localization of blood-group-active substances in compact bone tissue. A variety of preparation and identification methods were successfully used and compared. Samples were extracted from compact bone tissue, separated by HPTLC, and examined using the absorption-elution and PAP techniques. Additionally, the PAP technique was carried out on cryostat sections. Serologically active blood-group substances were consistently demonstrated in the organic components of the haversian canals.

ABO Blood-Group System

[Immunohistochemical antigen detection in dried tissue samples].

Investigations were carried out on dried tissue samples for the identification of ABH antigens and human hemoglobin using the indirect immunoperoxidase technique (PAP). Samples from various organs were stored at room temperature over a period of 1 year and periodically examined immunohistochemically. By means of a rehydration medium, blood group and species identification were successfully demonstrated in the complete experimental series.

ABO Blood-Group System

ABO blood grouping of hairs using an avidin-biotin-peroxidase complex technique.

Fifty-nine hair specimens obtained from human autopsies and volunteers were used for the determination of ABO blood group substances using the ABC (Avidin-Biotin Complex) technique. Positive staining for A, B and H blood group substances was detected only in the medulla of the hairs. Blood group antigens could not be detected in seven hair specimens because they possessed no medulla. Forty-seven specimens obtained from fresh cadavers and volunteers gave the correct results corresponding to the blood group of the donor, but some specimens from individuals of blood group A2, Le(a + b-) showed weak reaction with anti-A and strong reaction with anti-H. The staining intensity with anti-B and -H in some individuals of blood group AB was stronger than with anti-A serum. Five hair specimens obtained from decomposed bodies were also examined. The blood group antigens could be specifically detected in hairs obtained from two exhumed and one putrid body, but no positive reactions were obtained from two cases of drowning where the bodies had been in the sea for about 6 months. In a blind trial, hair specimens from 28 individuals were also examined. Twenty-two specimens which possessed a medulla gave the correct result. Six specimens gave no result because they possessed no medulla.

ABO Blood-Group System

Light-microscopic examination of ABH and Lewis antigens in human tracheal and epiglottic glands using the avidin-biotin-peroxidase complex technique.

The localization of ABH and Lewis antigens was examined in formalin-fixed, paraffin-embedded human tracheal and epiglottic glands using monoclonal anti A, B, H, Lea and Leb antibodies. The mucous cells of the glands showed reactivity with antibodies corresponding to the respective ABO blood groups of the tissue donors. The mucous cells from one blood group A, Le(a-b-) individual showed no reactivity with any antibodies and those from another blood group A, Le(a-b-) individual showed reactivity only with anti A antibody. In individuals from blood group Le(a + b-) of all ABO groups, the mucous cells reacted exclusively with anti Lea. In blood group O, Le(a-b+) individuals, the mucous cells showed intense reaction with anti H and Leb antibodies and weak to moderate reactivity with anti Lea. In Le(a-b+) individuals of A1, B and A1B blood groups, the mucous cells showed strong reactivity with anti A and/or B antibodies, moderate with anti Leb, weak or no activity with anti Lea and absent with anti H. In blood group A2 Le(a-b+) individuals, the mucous cells stained with anti A were weakly stained or completely unstained with anti H antibody, but cells negative with anti A gave strong positive reactions with anti H antibody.

ABO Blood-Group System

[Detection of glycosphingolipids of ABH and Le antigens on thin-layer plates using the PAP method].

Stroma from hemolyzed erythrocytes of blood groups 0, A1, B and A1B were obtained and subjected to butanol/phosphate buffer extraction. This extract was separated using HPTLC, and the ABH and Le substances were detected on the chromatogram using the PAP technique. The staining of the bands allowed specific demonstration of the serologically active glycosphingolipids present in the ABH and Le blood group substances. The antigens of the AB0 system showed a 3- to 12-band pattern. Each of the antigens Lea and Leb presented 3 bands. The slight differences in the levels of glycosphingolipids of equal chain lengths are probably due to differences in their chemical structures.

ABO Blood-Group System

[Analysis of erythrocytic carrier molecules (glycosphingolipids) with ABO and Le specificity].

Membrane structures (stroma) were obtained from erythrocytes of various ABO and Le blood groups using a butanol/phosphate buffer extraction. The extracts were separated using thin layer chromatography and the ABO and Le antigens demonstrated directly on the chromatogram using the PAP-technique. Detection was carried out using either Ulex europaeus lectin or monoclonal antibodies. By this method the direct staining of the bands allowed a specific demonstration of the ABH and Leactive glycosphingolipids. A determination of the number of sugar residues is possible as well as the recognition of quantitative variants.

ABO Blood-Group System