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Biomedical subjects

T Gedde-Dahl

Publications and source records attributed to T Gedde-Dahl.

At least 109 records · Page 6Linked to original sources
PubMed1981

Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis.

The 16 types of hereditary epidermolysis bullosa and the acquired type have been reviewed elsewhere (25). After a brief summary of the genetic and electron-microscopical diagnosis, this article discusses clinical signs and symptoms that are of help in discriminating between the different epidermolysis bullosa entities. Several distinct entities with identical electron-microscopical findings but very different course and prognosis exist. Despite the great value of an electron-microscopic diagnosis, minute clinical observation is therefore as important as ever. Recent advances in therapy and prenatal diagnosis are discussed.

Adrenal Cortex Hormones↗
PubMed1980

Genetic linkage relation to the pepsinogen Pg5 locus.

Linkage relations between pepsinogen Pg5 and 28 genetic marker loci have been analyzed in Norwegian families. No strong hint of linkage was found. Linkage to Pg5 in males has been ruled out below 25% recombination for HLA and GPT, below 20% recombination for Rh, PGM1, ACP, Gc, MNSs, PGM3, and Gm and Pi, below 15% recombination for Hp, below 10% recombination for Fy, ABO, C3 and Jk and below 4% for Kell, Tf, C6, Km and Le(Se). Possibilities of loose linkages include Pg5-C6 and Pg5-MNSs, both of which should be followed up.

Chromosome Mapping↗
PubMed1980

Genetics of pepsinogen I.

A study of 948 Norwegians including 118 matings with 429 children provided evidence that the Pg I group of pepsinogens must be coded for by more than one gene locus. At the Pg5 locus the alleles Pg5N, Pg5F and Pg5S with frequencies 0.644, 0.059 and 0.004, each code for a single electrophoretic isozyme band responsible for Pg phenotypes Pg 5, intense Pg (4) and Pg 5S, and a null-allele Pg5o with frequency 0.293. The Pg 2, Pg 3 and weak Pg 4 bands are not coded for by alleles at the Pg5 locus and differ from the Pg5 gene products in the oligopeptides split off by pepsinogen-pepsin conversion. The Pg5 alleles differ from each other in the pepsin-coding part of the gene. Intensity variations of Pg 5 have no simple genetic explanation.

Adult↗
PubMed1979

Genetic linkage relations of the sixth component of complement (C6).

Linkage relations between the C6 and 33 other genetic marker loci have been analyzed in Norwegian pedigrees, including 114 matings with 388 informative children, by use of the MOSM computer program. No suggestion of linkage was found. Very close or close linkage (theta less than 0.06) has been ruled out for males between C6 and the following 19 marker loci: GPT, HLA + Bf, Rh, C3, Hp, PGM3, Km, Gm, Fy, Gc, ABO Jk, GLO1, K, MNSs, PTC, ACP1, PGM1, and Pi. For several of the relations even loose-linkage is unlikely.

Adult↗
PubMed1979

The C4 system: formal and population genetics.

The present study shows that the C4 system as investigated by high voltage agarose gel electrophoresis is highly polymorphic. In a series of unrelated Norwegian adults, where C4 types have been ascertained through segregation in families, six different haplotypes have been found to occur with a frequency exceeding 1%. The genotype frequencies in the population fit expected Hardy-Weinberg distribution. In family material comprising 89 matings with 327 children the distribution of offspring is as expected according to autosomal codominant inheritance of haplotypes.

Complement C4↗
PubMed1979

Epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features.

A family is reported in which 11 members presented epidermolysis bullosa simplex with some unusual features, and 10 of whom had congenital mottled hyper- and hypopigmentation of the skin. Both anomalies are inherited together in an autosomal dominant fashion, although dominant X-linkage cannot be excluded. The epidermolysis without dyspigmentation in the 11th individual suggests that the syndrome in the other 10 members is due to genetic linkage of two independent genes and not to pleiotropism of a single mutant gene. The mottled pigmentation seems distinct from previously known dyspigmentations and is also suggestive of autosomal inactivation in man. (See addendum).

Adolescent↗
PubMed1978

Genetic polymorphism of the second component of human complement (C2): presentation of a modified typing technique and data on C2 phenotype distribution, linkage genetics, and haplotype associations a Norwegian family material.

Proteins were separated by prolonged isoelectric focusing in polyacrylamide gels, whereupon C2 bands were detected by a specific hemolytic assay. This was performed by treating the gel with iodine to increase C2 activity, and then developing C2 bands with an agarose gel overlay containing sensitized sheep cells and diluted human serum as a complement source deficient in functional C2. The gene frequencies observed in a material of 122 unrelated adults were: C2(1): 0.97 and C2(2): 0.03. C2 linkage relations and C2 haplotype associations have been examined a family material. It is concluded that C2 is very closely linked to HLA loci.

Adult↗
PubMed1977

The genetic polymorphism of the fourth component of human complement: methodological aspects and a presentation of linkage and association data relevant to its localization in the HLA region.

The C4 polymorphism in man has been studied by immunofixation electrophoresis, crossed immunoelectrophoresis, and functional detection after agarose gel electrophoresis. It has so far not been possible to reveal this polymorphism by isoelectric focusing and functional detection of C4 bands. Three common alleles and one less frequently occuring allele have been identified. In a small population sample studied by all the different techniques and verified by family segregation, the following gene frequencies have been found: C4F: 0.46, C4S: 0.32, C4F1: 0.20, and C4M: 0.02. By linkage and association studies in a family material it has been shown that a structural C4 locus is situated in the HLA region of chromosome 6 very close to the HLA-B and Bf loci.

Adult↗
PubMed1977

Nonlinkage between C6 and chromosome 6 markers.

C6 typing was performed in a family material by two different techniques: serum or plasma samples were subjected either to high-voltage agarose gel electrophoresis or to isoelectric focusing in polyacrylamide gel slabs. Proteins with C6 activity were then visualized by a specific, hemolytic assay. In 81 unrelated adults within the family material the following allele frequencies were found: C6A:0.61 and C6B:0.39. Linkage studies exclude linkage between C6 and HLA region marker loci, and also between C6 and another chromosome 6 marker locus PGM3.

Adult↗
PubMed1977

The role of human skin collagenase in epidermolysis bullosa.

Human skin collagenase was quantitated by radioimmunoassay in 40 patients with various forms of epidermolysis bullosa to compare levels of the enzyme in blistered and clinically unaffected skin. Immunoreactive human skin collagenase was significantly elevated in the blistered skin of patients with both recessive and dominant forms of dystrophic epidermolysis bullosa (DEB). In addition, patients with generalized recessive DEB manifested a 4-fold increase in collagenase protein in normal-appearing skin, and patients with localized recessive DEB or epidermolysis bullosa letalis showed a 3-t to 3.5-fold elevation in the enzyme. However, patients with dominantly inherited DEB failed to displays a statistically significant increase in immunoreactive collagenase in nonblistered skin. Although it cannot be definitely stated whether the elevated collagenase content in the blistered skin represents a primary or secondary event, such as part of a wound healing response, the demonstration of markedly increased levels of collagenase in normal-appearing skin could, in part, provide an explanation at the molecular level for the formation of blisters in this disease.

Antigens↗