Biomedical subjects

J Dissing

Publications and source records attributed to J Dissing.

29 records · Page 2Linked to original sources

PubMed1980

Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

The electrophoretically detectable phenotypes of human red cell galactose-1-phosphate uridylyltransferase (GALT) were determined in 2,074 unrelated Danes. The gene frequencies were: GALT1 = 0.9233 and GALT2 = 0.0767. The segregation of phenotypes in 765 mother-child pairs was consistent with autosomal codominant inheritance. One apparent mother-child incompatibility with respect to phenotypes was observed which, however, appeared to be due to the segregation of a silent gene. The results of an investigation of 248 paternity cases are reported, and the application of the GALT polymorphism to paternity cases is discussed.

Child↗

PubMed1979

Phosphonic and arsonic acids as inhibitors of human red cell acid phosphatase and their use in affinity chromatography.

1. In order to obtain an effective ligand for affinity chromatography of the low molecular weight acid phosphatase (orthophosphoric-monoester phosphohydrolase (acid optimum), EC 3.1.3.2) from human red cells nine phosphonic and two arsonic acid substrate analogues were investigated as potential inhibitors. The two forms of acid phosphatase type B (b1 and b2) were isolated and partially purified using conventional methods and the inhibitory action of the substrate analogs investigated. 2. Four of the phosphonic acids were relatively effective competitive inhibitors. It appears that certain structural and electronic requirements have to be fulfilled by the phosphonic acids in order to exhibit significant affinity for the enzyme. A high affinity appears to require the presence of a bulky, hydrophobic moiety which has to be separated from the phosphorus atom by the distance of one atom. 3. p-Aminobenzylphosphonic acid exerted the highest affinity for acid phosphatase with a pH optimum at 6.5. Ki values of 4 . 10(-4) and 6 . 10(-4) M were found for the b1 and b2 forms, respectively. 4. Coupling of p-aminobenzylphosphonic acid to Agarose yielded an effective and specific affinity medium. By means of affinity chromatography using this medium, acid phosphatase was purified 500-fold in a single step.

Acid Phosphatase↗

PubMed1976

Human red cell acid phosphatase: quantitative evidence of a silent gene PO, and a Danish population study.

In a forensic case of disputed paternity an apparent mother/child incompatibility with respect to red cell acid phosphatase was found, the mother appearing as type A and the child as type B. Determination of electrophoretic type and of acid phosphatase activity in 8 of the family members strongly suggested the presence of a silent gene PO in 4 of the individuals. The phosphatase levels in the four heterozygotes were about half the values expected from normal values determined in 100 healthy adults representing the different phenotypes. The distribution of red cell acid phosphatase types in 3,735 unrelated Danish adults and in 1,109 mother/child pairs is reported; gene frequencies Pa = 0.369, Pb = 0.566 and Pc = 0.065. The PO gene frequency was roughly estimated as 0.001. Results are reported on the application of the red cell acid phosphatase system to 300 2-men cases of disputed paternity.

Acid Phosphatase↗

PubMed1975

Association between the C3F gene and atherosclerotic vascular diseases.

The C3 phenotype distribution was studied in a group of patients suffering from atherosclerotic vascular diseases. A statistically significant association was found between the presence of the C3F gene and the occurrence of atherosclerosis. A relative risk incidence of the disease of 1.87 was found for the C3F-positive individuals as compared to the C3F-negative ones.

Adult↗

PubMed1975

C3 polymorphism in relation to age.

The C3 phenotype distribution was investigated in different age-groups among 2,078 voluntary blood donors between the ages of 20 and 65 years, in a group of unrelated babies and in a group of old healthy persons. A continuous increase in the C3F gene frequency with age was found among the blood donors varying from 0.1780 in the youngest age group (babies: 0.1585) to 0.2516 at the age of 50-55 years followed by a continuous decrease to a level of 0.1700 among the eldest donors (01718 among the old persons). In the age group 45-49 years the C3 distribution differed significantly from that in the adjoining age-groups (C3F = 0.1619). It is believed that the variations are brought about by selection of the blood donor population and a balanced polymorphism for the C3 system, possibly due to differences in the biological efficiency of the C3 variants in the complement sequence.

Adult↗

PubMed1973