H. Ritter

Polymorphism of red cell glyoxalase I (E.C.: 4.4.1.5). A new genetic marker in man

SummaryThe polymorphism of glyoxalase I was investigated in 169 mother-child combinations from southwestern Germany. Glyoxalase I (GLO) has 3 common phenotypes: GLO 1, GLO 2-1, and GLO 2. The results are in good agreement with the formal hypothesis: Two alleles GLO1 and GLO2 at an autosomal locus. The GLO1 gene frequency was estimated to be 0.39. From the electrophoretic pattern the GLO-molecule appears to consist of two subunits.ZusammenfassungGlyoxalase I (GLO) besitzt einen genetisch gesteuerten Polymorphismus mit den 3 häufigen Phänotypen GLO 1, GLO 2-1 und GLO 2. Die Untersuchung von 169 Mutter-Kind-Verbindungen läßt folgende formale Interpretation zu: 2 Allele GLO1 und GLO2 an einem autosomalen Locus. Für GLO1 beträgt die Genfrequenz 0,39. Aus den Zymogrammen ist zu vermuten, daß das Enzym Dimerstruktur besitzt.

Possible linkage of HL-A and GLO

SummaryIn 21 informative families with 60 children, a possible linkage between HL-A and GLO was found (recombination fraction approximatively 0.15). The sequence of the loci on chromosome 6 might be GLO, HL-A, PGM3, MNSs.ZusammenfassungKoppelungsuntersuchungen bei 21 informativen Familien mit 60 Kindern zeigten, daß die Loci HL-A und GLO möglicherweise gekoppelt sind (Rekombinationsfrequenz ca. 15%). Die Reihenfolge der Loci am Chromosom 6 kann wie folgt angenommen werden: GLO, HL-A, PGM3, MNSs.

Red cell glyoxalase i (E.C.: 4.4.1.5): formal genetics and linkage relations.

SummaryThe segregation of GLO-phenotypes was analysed in 119 families with 266 children. The results are in agreement with the formal two-allele-model. Close linkage was ruled out for a number of informative markers.ZusammenfassungDer GLO-Polymorphismus wurde an 119 Familien mit 266 Kindern untersucht. Die Aufspaltung der Kinderphänotypen bestätigt das formalgenetische Modell: 2 Allele GLO1 und GLO2 an einem autosomalen Locus. Für eine Reihe von informativen Systemen konnte enge Kopplung mit dem GLO-Locus ausgeschlossen werden.

PGM1 subtyping by means of acid starch gel electrophoresis

Summary‘PGM1 subtyping’ can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different cathodal mobilities of PGM1-gene products, the allelic superscripts for PGM1 were designated as 1F, 1S, and 2F, 2S, respectively. Gene frequencies of a population sample from Southwestern Germany are presented. They fit in well with other, previously published data on this matter.

D3S1358: Sequence analysis and gene frequency in a German population

Eight alleles of the STR system D3S1358 were observed and sequenced. The alleles ranged in size from 119 bp (13 repeats) to 147 bp (20 repeats) and consist of two diverse tetranucleotides: [AGAT] and [AGAC]. Alleles 16 and 17 show basic repeats which are different in one base. The allele frequency of 499 unrelated persons from SW-Germany yielded no deviation from Hardy-Weinberg equilibrium. A comparison with a Portuguese population showed some small differences, i.e. one allele has not been found in the Portuguese sample until now. The mutation rate was estimated with 0.8% analysing 65 families.

Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency

SummaryMuscle adenylate kinase deficiency was recognized in a family, in which two children died due to malignant hyperpyrexia following halothane anesthesia.

Zur Genetik der 6-Phosphogluconatdehydrogenase (EC: 1.1.1.44): Eine neue Variante F (Freiburg)

SummaryWithin 2455 individuals two have a faster moving variant 6-PGD AF. The zymogram is similar to the Friendship variant but not altered after addition of NADP to the starch gel. The allele is segregating in the two families. The gene frequency of 6-PGDf is 0.0004.ZusammenfassungUnter 2455 Personen fand sich zweimal eine Variante mit einer schneller wandernden Fraktion. Der Phänotypus ist der Friedenship-Variante ähnlich, aber nicht durch NADP im Gel modifizierbar. Die Kinderphänotypen in den Familien der Probanden sprechen nicht gegen die Annahme eines Alleles 6-PGDf. Die Genhäufigkeit für 6-PGDf liegt bei 0,0004.

Mitochondrial malic enzyme (E.C. 1.1.1.40) in human leukocytes: Formal genetics and population genetics

SummaryMitochondrial malic enzyme MEM (E.C. 1.1.1.40) is present in human leukocytes; the polymorphism of MEM thus can be easily demonstrated using routine starch gel electrophoresis. Data on formal genetics are given. The gene frequency of ME1Mwas estimated to be 0.67±0.02.

Polymorphism of alanine aminotransferase (E.C.2.7.6.1): Common and rare alleles

SummaryGene frequencies of common and rare GPT alleles derived from an investigation of 1139 unrelated, healthy individuals from southwestern Germany are given. GPT typing was performed by means of horizontal starch gel electrophoresis in a Tris-histidinexHCl buffer system. In addition, a new electrophoretic variant, GPT9, is described.The frequencies of the GPT alleles observed were calculated as: GPT1 0.4987; GPT2, 0.4686; GPT1M, 0.022; GPT0, 0.005; GPT3, 0.0022; GPT4, 0.0025; GPT8, 0.0005; GPT9, 0.0005.

Zur transspezifischen Variabilität der NADH-Diaphorase der Primaten

SummaryThe NADH-Diaphorases in the erythrocytes of Primates show a transspecific variability, caused by differences in charge. Six kinds of genetically determined enzymes are distinguishable by means of starchgel-electrophoresis. The distribution of the various NADH-Diaphorase phenotypes in 425 subhuman Primates was estimated.ZusammenfassungDie NADH-Diaphorasen in Erythrocyten der Primaten lassen eine transspezifische Variabilität erkennen, die durch Ladungsunterschiede bedingt wird. Mit der Stärkegelelektrophorese können sechs verschiedene Enzym-Varianten differenziert werden. Die Verteilung der verschiedenen NADH-Diaphorase-Phänotypen von 425 subhumanen Primaten wurde ermittelt.