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Biomedical subjects

K G Heide

Publications and source records attributed to K G Heide.

At least 19 recordsLinked to original sources

Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.

Serological and molecular (DNA-STR) analysis of a paternity case demonstrated exclusion of paternity of the presumptive father in two markers (ACP and Apo B, both localized on chromosome 2, region 2p25.2 and 2p23/24, respectively) in a phenotypically normal girl with a normal karyotype 46,XX (by GT-banding). The index of paternity calculated for other serological (seven erythrocyte antigens, six serum protein systems, and seven isozymes, as well as the A- and B-HLA loci) and nine DNA markers, excluding ACP and Apo B, gives a very high (virtually certain) degree of paternity for the presumptive father. Maternal uniparental disomy (UPD) for chromosome 2 was suspected. Evaluation of polymorphic DNA markers (STRs) spanning chromosome 2 of the child, mother, and presumptive father demonstrated that the girl had inherited two maternal chromosome 2 homologues, whereas alleles for markers from other chromosomes were inherited from the father in a Mendelian fashion. The girl was homoallelic for informative markers mapping to the chromosomal regions 2p23-25, but she was heteroallelic for informative markers on the long arm of chromosome 2, establishing that the maternal UPD with partial isodisomy of the short arm was caused by a meiosis I nondisjunction event with genetic recombination (chiasmata in this region 2p23-25) during oogenesis.

Blood Group Antigens↗

Multicenter evaluation study on a new HEp2 ANA screening enzyme immune assay.

The COBAS Core HEp2 ANA enzyme immune assay (EIA) was evaluated in a precision and a clinical sample study in comparison to indirect immunofluorescence assay (IFA) on HEp2-cells. In the precision study the COBAS Core EIA yielded intraassay coefficient variations (CVs) mostly below 9%, and interassay CVs between 4.7% and 10.4%. When comparing the COBAS Core EIA to IFA, the results corresponded well in healthy subjects, systemic lupus erythematosus, mixed connective tissue disease and rheumatoid arthritis. In the case of Sjögren's syndrome and scleroderma patients the COBAS Core EIA yielded a lower rate of positive results compared to IFA. This discrepancy may be explained by the lack of detection of autoantibodies to nuclear antigens that can be identified only by IFA due to their compartmentalization and higher localized antigen density in HEp2 cells. The discrepancies in the group of dermato/polymyositis patients are due to the fact that the EIA contains mainly nuclear antigens and was able to detect only antibodies against the cytoplasmic Jo1 antigen that was added to the HEp2 nuclear extract. Routine sera were also evaluated; good agreement was found in sera from patients attending tertiary reference centres for autoimmune diseases but a higher number of discrepancies was reported in sera from unselected populations.

Adult↗

[Detection of rubella virus antibodies in single radial haemolysis-test (author's transl)].

Different kinds of erythrocytes (human, pigeon, chicken and sheep) and complement (guinea pig, rabbit and rat) were tested in rubella single radial hemolysis-test (SRHT, hemolysis-in-gel = HIG-test) in order to detect IgG and IgM antibodies. Experiments showed that sera which were used as complement, contained antibodies against different kinds of erythrocytes. If complement from rabbit and rat should be used, an adsorption will be necessary. For serological surveillance sheep and chicken erythrocytes in connection with guinea pig serum as complement were best suited. Positive results were also obtained with pigeon erythrocytes whereas human RBC gave negative reactions. A detection of IgM antibodies in the SRHT was not possible.

Animals↗

[Esterase D polymorphism: phenotype- and gene frequencies in Northern Germany (Schleswig-Holstein) (author's transl)].

Esterase D phenotypes were determined in a population sample of Northern Germany (Schleswig-Holstein) by starch gel electrophoresis. The gene frequencies in 1088 unrelated individuals were calculated with 0,902574 (+/- 0,006357) for EsD1 and 0,097426 (+/- 0,06357) for EsD2; rare phenotypes were not observed. Family investigations support the assumed modus of autosomal codominant inheritance.

Adult↗

[Calculation of the plausibility of paternity, using the results of blood grouping tests in cases in which the fatherhood of a man to twins and siblings is disputed. III. Practical experience with the method used for calculation of some cases concerning twins and siblings (author's transl)].

In 129 two-children cases, including 84 twin cases and 45 brother and sister cases, the probability of paternity of one or several men was calculated, applying the method of Hummel and Schulte-Mönting. With this method the whole information, given by the blood group results, is used. Because of this, the achieved values of probability in most of the cases are higher than the values achieved using the Essen-Möller formula, in which the relation between the children is not taken into account.

Blood Group Antigens↗