J. Kömpf

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.

Population genetics of red cell glyoxalase I (E.C.: 4.4.1.5)

SummaryThe polymorphism of Glyoxalase I was investigated in a population sample from Southwestern Germany. The frequency of the GLO2 allele was determined to be 0.427.ZusammenfassungDer Polymorphismus der Glyoxalase I wurde an einer Bevölkerungsstichprobe aus Südwestdeutschland untersucht. Die Genhäufigkeit für GLO1 beträgt 0,427.

Localization of S-adenosylhomocysteine Hydrolase in the Rat Kidney:

S-adenosylhomocysteine (SAH) hydrolase is a cytosolic enzyme present in the kidney. Enzyme activities of SAH hydrolase were measured in the kidney in isolated glomeruli and tubules. SAH hydrolase activity was 0.62 ± 0.02 mU/mg in the kidney, 0.32 ± 0.03 mU/mg in the glomeruli, and 0.50 ± 0.02 mU/mg in isolated tubules. Using immunohistochemical methods, we describe the localization of the enzyme SAH hydrolase in rat kidney with a highly specific antibody raised in rabbits against purified SAH hydrolase from bovine kidney. This antibody crossreacts to almost the same extent with the SAH hydrolase from different species such as rat, pig, and human. Using light microscopy, SAH hydrolase was visualized by the biotin-streptavidin-alkaline phosphatase immunohistochemical procedure. SAH hydrolase immunostaining was observed in glomeruli and in the epithelium of the proximal and distal tubules. The collecting ducts of the cortex and medulla were homogeneously stained. By using double immunofluorescence staining and two-channel immunofluorescence confocal laser scanning microscopy, we differentiated the glomerular cells (endothelium, mesangium, podocytes) and found intensive staining of podocytes. Our results show that the enzyme SAH hydrolase is found ubiquitously in the rat kidney. The prominent staining of SAH hydrolase in the podocytes may reflect high rates of transmethylation.

Population genetics of soluble glutamic-pyruvic transaminase (EC:2.6.1.2): Gene frequencies in Southwestern Germany

SummaryIn a population sample from Southwestern Germany GPT-phenotypes have been determined. The allele GPT1 is more frequent in this sample than in the USA.

Linkage of Pgm-3 in the house mouse and homologies of three phosphoglucomutase loci in mouse and man

The discovery of a third phosphoglucomutase locus (Pgm-3) in the house mouse is reported. Three alleles are recognized on the basis of differences in electrophoretic mobility and enzymatic activity. Pgm-3a (fast mobility and high activity) is present in inbred strain C57BL/10J and 24 other strains; Pgm-3b (slow mobility and high activity) is present in LP/Pas and six other strains; and Pgm-3c (no detectable activity in any tissue tested) is present in strain DBA/2J and 14 other strains. Seventy-four recombinant inbred strains derived from progenitors that differed at Pgm-3 were used to study genic linkage. Pgm-3 is on chromosome 9 and is linked to Sep-1, d, Mod-1, and Ltw-3. Gene order and recombination frequencies are estimated as d 3.8±1.8% Pgm-3 2.3±1.2% Mod-1. Substrate specificities and cofactor requirements show that mouse Pgm-1 is homologous with human Pgm-2, mouse Pgm-2 with human Pgm-1, and mouse Pgm-3 with human Pgm-3.

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.