S. Bissbort

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.

Confirmation of linkage between the loci for HL-A and glyoxalase I

SummaryLinkage analysis of 7 families with 30 children confirmed previous findings of the linkage between HL-A and GLO. Out of 28 families with 90 children the highest lod score value obtained was +8.887 (recombination fraction=0.1).

Confirmation of the linkage HL-A/PGM3

SummaryIn a series of 42 families with 101 children the linkage between HL-A and PGM3 could be confirmed (most likely recombination fraction for male=0.15).ZusammenfassungIm Rhamen von Familienuntersuchungen, die 42 Elternpaare mit 101 Kindern umfaßten, konnte die Koppelung von HL-A und PGM3 bestätigt werden (vermutliche Rekombinationsfrequenz bei Männern=0,15).

Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12)

SummaryThe genetic polymorphism of galactose-1-phosphate-uridyl transferases was investigated in a population sample in southwestern Germany. The frequency of the common allele Gt2 was estimated to be 0.0723. Due to the electrophoretic pattern of homozygous and heterozygous phenotypes the enzyme is of dimeric structure consisting of two identical polypeptide chains.ZusammenfassungDer Polymorphismus der Galactose-1-Phosphat-Uridyl-Transferasen wurde in einer Bevölkerungsstichprobe aus Südwestdeutschland untersucht. Die Genfrequenz für das Allel Gt2 beträgt 0,0723. Aus den Zymogrammen ergibt sich, daß das Enzyme Dimerstruktur besitzt.

Map Order of the Linkage Group GLO‐Bf‐HLA‐A‐PGM3 on Human Chromosome 6

Linkage analysis of 52 families with 181 children confirms close linkage for GLO‐Bf, GLO‐HLA‐A, and Bf‐HLA‐A and proves linkage between HLA‐A and PGM3. Linkage for Bf‐PGM3 and GLO‐PGM3, respectively, seems to be likely; close linkage can be excluded. From the relative map distances, but above all from the segregation of defined linkage phases in crossover families, we can hypothesize that the sequence order of the loci should be GLO‐Bf‐HLA‐A‐PGM3.

Red-cell uridine-5-monophosphate kinase (UMPK)

SummaryIn a population sample from southwestern Germany the frequency of UMPK1 was estimated to be 0.949. The segregation of the childrens phenotypes is in agreement with the formal model: 2 common alleles UMPK1 and UMPK2 at an autosomal locus. Data on linkage relations are referred.ZusammenfassungDie Genhäufigkeit für UMPK1 in einer südwestdeutschen Stichprobe beträgt 0.949. Die Analyse von Familien bestätigt das formalgenetische Modell: 2 häufige Allele UMPK1 und UMPK2 an einem autosomalen Locus. Ergebnisse einer Kopplungsanalyse werden mitgeteilt.