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Biomedical subjects

E Andresen

Publications and source records attributed to E Andresen.

At least 37 records · Page 2Linked to original sources
PubMed1977

Haemolytic anaemia in Basenji dogs. 2. Partial deficiency of erythrocyte pyruvate kinase (PK; EC 2.7.1.40) in heterozygous carriers.

Congenital nonspherocytic haemolytic anaemia (HA) in dogs of the Basenji breed is inherited as a simple, autosomal recessive trait. Previous results of pyruvate kinase (PK) assays suggest a causal relationship between the anaemia and PK deficiency in erythrocytes. In the present investigation assays of this enzyme have been performed on haemolysates from 45 Basenji dogs, comprising 3 anaemic and 42 non-anaemic individuals of which 13 were known heterozygotes. The PK activity in haemolysates from the 42 non-anaemic dogs exhibited a bimodal distribution corresponding to the genotypic classes: heterozygotes and normal homozygotes. The results indicate that heterozygotes have a partial, detectable enzyme deficiency, not reflected in clinical disease, and thus give evidence of a gene dosage effect in agreement with observations in man. The proposed genotypes PK PK, PK pk and pk pk refer to normal homozygotes, heterozygotes, and anaemic individuals, respectively. The findings strengthen the genetic hypothesis of recessiveness of the anaemia by direct detection of heterozygosity of parents of affected individuals. Moreover, the results are of value in comparative studies and they have practical application in connection with eradication programmes.

Anemia, Hemolytic, Congenital↗
PubMed1976

Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance.

Previous observations suggested that pituitary dwarfism of German Shepherd dogs is due to simple, autosomal recessive inheritance, but own data were insufficient to test the hypothesis. The total material now includes six dwarfs from five litters. Omitting the proband litter, a total of 21 dogs from four litters, each with one dwarf, were relevant for testing goodness of fit. The observed segregation ratio was in agreement with that expected and thus supported the genetic hypothesis. According to this hypothesis it was possible to point at various heterozygous carriers among ancestors of the dwarfs within a pedigree comprising 13 generations.

Animals↗