[Pathobiochemistry of galactosemia and usefulness of the Gt system in expert opinions (author's transl)]. / Pathobiochemie der Galaktoseintoleranz und Verwendbarkeit des Enzyms Galaktose-1-Phosphat-Uridyltransferase (Gt) in der Paternitätsbegutachtung

We investigated the genetic polymorphism of galactose-1-phosphate-uridyl-transferase (Gt) of 525 blood samples from Southern Germany. The gene frequencies of Gt1 are 0.9581 and of Gt2 0.0623. Comparing the gene frequencies of galactosemia (0.006), GtD (0.06), Gt1 (0.9581) and Gt2 (0.0623), we see that the gene frequencies of GtD and Gt2 are nearly identical. In expert opinions that Gt is a system of insufficient information.

A new case of recombination within the HL-A system.

We report another case of recombination within the HL-A system between the first and second segregant series of antigens. The recombination frequency is 0.8%.

Esterase D polymorphism: description of the "new" allele EsD4.

Two "new" phenotypes of the esterase D system, named EsD 4-1 and EsD 4-2, were observed in a father and his daughter, respectively. An additional allele EsD4 is postulated.

Determination of isozymes of phosphoglycerate-mutase (E.C.2.7.5.3) and enolase (E.C.4.2.1.11) in human erythrocytes.

525 human hemolysates were tested for the isozymic patterns of phosphoglycerate mutase and enolase. Genetic models for interpreting the pherograms are suggested.

First determination of the isozyme patterns of phosphoglycerate mutases (E.C.2.7.5.3) and phosphoglycerate kinases (E.C.2.7.2.3) in human tissues.

We present in this paper the first report about identification of several fractions of phosphoglycerate mutase (PGlyM) activity using starch gel electrophoresis and two different buffer systems. A typical muscle form of PGlyM was detected. It is also shown that isozymes of phosphoglycerate kinase (PGK) can be separated through the buffer system used by Spencer et al; (1964) for the phosphogluco mutase.

[Oncocytic adenocarcinoma of the submandibular gland]. / Onkozytäres Adenokarzinom der Glandula submandibularis.

BACKGROUND: Malignant oncocytic tumors rarely occur in major salivary glands and generally account for < 1% of all salivary tumors. There is no difference of both sexes and appearing mainly between 50 and 60 years of age. They comprise oncocytes, which are epithelial cells with abnormally formed cytoplasm and acidophilic granular cytoplasma. In the process of the malignant transformation the coexistence from oncocytic rests and untypical oncocytic carcinoma portions can be seen. The tumors show no capsule and an infiltrative local growth with perineural and vascular expansions. PATIENT AND METHOD: A rare case of a 59-year-old man with malignant oncocytoma is presented. The tumor was found in the left submandibular gland with one enlarged lymph node near by. RESULT AND CONCLUSIONS: A general overview of the available literature and the histological classification of oncocytomas is given. Therapy consists of surgical resection and radiotherapy. Close clinical controls are necessary.

Dermatoglyphic patterns in trisomy 8 syndrome.

Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x=96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal-whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z' and z'' (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome.

Population genetics of glyoxalase I (E.C.4.4.1.5) in human erythrocytes.

1025 individuals from Southern Germany were examined. The gene frequencies for GLI1 are 0.4235 and for GLI2 0.5765. These frequencies are compared with those of other authors.

First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.

Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid alpha-glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid alpha-glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7-13 weeks, 1-15% of the total alpha-glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling. A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenatal diagnosis.

ADA-7--a new allele.

A new ADA phenotype which is particularly susceptible to phenotypic changes following storage was observed. Family studies indicate that this type may be due to a new allele, ADA-7. The phenotype observed was classified as ADA 7-1.

The medicolegal usefulness of the Kidd system in exclusion of parentage.

The blood samples of 2741 people from Germany were examined. The gene frequencies of Jka was found to be 0.49345 and of Jkb 0.50655. The theoretical probability of exclusion lies at 18,57%, the practical one only at 7.09%, because in many cases, the presumptive father is also the biological father. It is a system of dependable information. The Kidd system can be used as a classical system for exclusion of parentage.