Heide-G. Benkmann

Polymorphism of delta-aminolevulinic acid dehydratase in various populations.

ALADH polymorphism was studied in population samples from Germany, Japan and Liberia. The frequency of the allele ALADH 1was 0.889 in the German sample, 0.942 in the Japan

Distribution of alpha-1-antitrypsin and haptoglobin phenotypes in bladder cancer patients

Frequencies of the alpha 1-antitrypsin (Pi) alleles and haptoglobin phenotypes have been determined in a series of 264 North-German patients with bladder cancer. Compared to a healthy control population, we found a statistically significant decrease of Hp 2-2 phenotype in the patient series. A significant increase of the serum Pi Z allele, as previously shown for patient groups with certain other tumours, could also be confirmed for bladder cancer. Furthermore, a distinct association between a lowered M 3 allele and bladder carcinoma was observed.

Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum α1-antitrypsin (Pi) in a German population

SummaryFrequencies and phenotype distribution of red cell adenosine deaminase (ADA), adenylate kinase (AK), phosphoglucomutase (PGM1), acid phosphatase (AP) and serum α1-antitrypsin (α1-at or Pi) were examined in a German group of the area of Hamburg. The observed distribution of phenotypes in all five systems is consistent with that expected by the Hardy-Weinberg equilibrium. Within the mother/child combinations we found no incompatible combination. The results of additional family investigations for α1-antitrypsin are consistent with Mendelian expectation.

Ecogenetic studies in Atacameño Indians

SummaryAldehyde dehydrogenase deficiency, N-acetyltransferase variation and the polymorphisms of α1-antitrypsin, serum cholinesterase, paraoxonase, and δ-aminolevulinic acid dehydratase were investigated in 180 Atacameño Indians from the North of Chile. The genetic predisposition of these individuals for possible atypical reactions against environmental agents and drugs, as well as general implications of these findings, are discussed.

δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency

The inheritance of a deficient ^‐aminolevulinic acid dehydrase (ALA‐D; synonym: porphobilinogen synthase; EC 4.2.1.24) was studied in blood samples of two families over three generations. The propositus in each family was a young male acute hepatic porphyria patient with an almost complete ALA‐D deficiency in the homozygous state (ALA‐D activity < 2% of controls). Heterozygotes are clinically non‐affected (mean ALA‐D 36% of controls). The mode of transmission could be traced by enzyme activity and electrophoretic polymorphism studies. Heterozygotes are detected by the demonstration of enzyme activity in the gel. The notation D was used for the gene expressing the defective enzyme. The “phenotype” D‐l was observed in six, the “phenotype” D‐2 in three of all heterozygotes studied. These results are compatible with a single normal allele in heterozygotes responsible for enzyme activity. Quantitative assays and the segregation pattern in both families suggest a 3‐allele‐system for the inheritance of ALA‐D deficiency.

Red cell enzyme and serum protein polymorphisms in South Korea.

Two population groups in South Korea, one from Kwangju and one from Kangreung, were studied in regard to the erythrocyte enzyme polymorphisms GPT, ACP, GLO, ESD, 6PGD, ADA, AK, PGP and subtypes of PGM1 as well as regarding the serum protein variants of C3, HP, BF, PLG, AMY and the subtypes of GC, TF and PI. The results were compared with data of the population groups from the area of Cheju Island, Taejon and Seoul. The Korean population showed a rather high degree of genetic homogeneity.

Genetic polymorphism of C′3 (β1C-globulin) component of complement in a German and a Spanish population

SummaryThe polymorphism of the major component of human complement (C′3 or

Genetic Polymorphism of the Third Component of Complement (C3) and Levels of β1C/β1A-GIobulin in Sera of German and Spanish Populations

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