Analyse der Koppelung zwischen dem HL-A-System und anderen Loci

Zusammenfassung Die Koppelung der HL-A-Gene mit den Loci ABO, Rh, MNSs, P, Fy, Jk, K, SEP, PGM ₁, AK, ADA, GPT, Hp, Gm, Inv, Gc, Pt und Se wurde mit Hilfe der Lod-score-Methode untersucht. Es wurde dabei kein Hinweis für eine enge Koppelung zwischen den HL-A-Loci und den anderen Genorten gefunden.

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Analysis of the linkage between the HL-A loci and the genes of other markers

Summary The linkage of the HL-A genes with the loci ABO, Rh, MNSs, P. Fy, Jk, K, acP, PGM ₁, AK, ADA, GPT, Hp, Gm, Inv, Gc, Pt and ABH secretion was analyses using the lod-score method. There was no evidence for a close linkage between the HL-A loci and the genes of the other markers.

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National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe)     

Human phosphoglycolate phosphatase (PGP) E.C.3.1.3.18: Linkage analysis

Summary Linkage data on phosphoglycolate phosphatase (PGP) E.C.3.1.3.18 and 26 other human genetic markers are presented. One hundred and one families from the southwestern area of Germany were tested. Close linkage between PGP and the following markers could be ruled out: AB0, acP, ADA, GPT, PGM₁, GLO, HLA, and PGM₃. There is some evidence for possible linkage with MNSs, Rh, Gm and EsD. Family segregation data confirm the hypothesis formerly established by Barker and Hopkinson: three common alleles PGP¹, PGP² and PGP³ at an autosomal locus PGP.Supported by the Deutsche ForschungsgemeinschaftSupported by DAAD and Portuguese Inst. for Scientific Research (INIC)     

Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids

Summary A correlation between the expression or absence of human glyoxalase I and chromosome 6 (as well its markers ME₁, IPO-B, and PGM₃) was observed in man-mouse somatic cell hybrids. This segregation pattern indicates that the GLO gene is situated on chromosome 6.

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Zusammenfassung In Hybriden somatischer Zellen zwischen Maus und Mensch wurde eine Korrelation zwischen Vorhandensein bzw. Abwesenheit der menschlichen Glyoxalase I und von Chromosom 6 (sowie seinen Markern ME₁, IPO-B und PGM₃) ermittelt. Diese Korrelation spricht dafür, daß das GLO-Gen auf Chromosome 6 liegt.

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Supported by the Deutsche Forschungsgemeinschaft BE 352/8 and GR 373/6.     

Aminolevulinate dehydratase (E.C. 4.2.1.24): Linkage analysis

Summary Linkage data on aminolevulinate dehydratase (ALADH, E.C. 4.2.1.24) and a series of other human genetic markers are presented. One hundred and two families (25 of them being informative) from southwestern Germany were tested. Close linkage (=0.05) between ALADH and the following markers could be excluded: Rh, PGM₁, Fy, ACP1, MNSs, HLA, Bf, GLO, PGM₃, Jk, Pi, PGP, K, GPT. There is some evidence of possible linkage with HPA.     

Localization of genes on human chromosomes by studies of human-Chinese hamster somatic cell hybrids

Summary About 75 man-Chinese hamster hybrid clones were analysed for their human chromosome complement and simultaneously tested for human enzyme markers. Correlation of the presence of chromosomes and enzyme activity revealed assignments of the PGD linkage group to chromosome 1, ME₁, PGM₃ and IPO-B to 6, LDH-A to 11, LDH-B to 12 and IPO-A to 21.The assignment of PGM₃ puts the HL-A loci on chromosome 6. Segregation of the enzymes of the PGD linkage group was demonstrated in a clone which had retained a deleted chromosome 1. Subclones of this line indicate that the loci for PGD and PGM₁ are situated on the short arm or proximal part of the long arm of 1 and the locus for Pep-C on the long arm.

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Zusammenfassung Etwa 75 Hybrid-Zellklone Mensch/Chinesischer Hamster wurden in bezug auf den menschlichen Anteil ihres Chromosomensatzes analysiert und gleichzeitig auf menschliche Enzym-Marker untersucht. Die Korrelation zwischen Anwesenheit von Chromosomen und Enzym-Markern ließ die Folgerung zu, daß die PGD-Koppelungsgruppe auf Chromosom 1, ME₁, PGM₃ und IPO-B auf Nr. 6, LDH-A auf 11, LDH-B auf 12 und IPO-A auf Chromosom 21 gelegen ist.Die Lokalisation von PGM₃ läßt die Folgerung zu, daß auch die HL-A-loci auf Chromosom 6 lokalisiert sind. Aufspaltung der Enzyme der PGD-Koppelungsgruppe konnte an einem Klon dargestellt werden, der ein deletiertes Chromosom 1 enthielt. Die Subklone dieser Linie zeigen, daß die loci für PGD und PGM₁ auf dem kurzen Arm oder dem proximalen Teil des langen Arms von Chromosom Nr. 1 liegen, während der locus für Pep-C auf dem langen Arm gelegen ist.

     

Population genetic studies in three Chinese minorities

Three minority ethnic groups from China (Mongolians, Koreans, Zhuang) were examined with respect to the genetic markers GLO, GPT, ACP, ESD, 6-PGD, PGM₁ subtypes, C3, and TF. Significant variations were noted for the gene frequencies of GLO, GPT, ESD, sub PGM₁ between Zhuang and Mongolians; for GPT, ACP, ESD, sub PGM₁ between Zhuang and Koreans; and for GLO between Mongolians and Koreans.     

Genetic linkage relations of the sixth component of complement (C6)

Summary Linkage relations between the C6 and 33 other genetic marker loci have been analyzed in Norwegian pedigrees, including 114 matings with 388 informative children, by use of the MOSM computer program. No suggestion of linkage was found. Very close or close linkage (<0.06) has been ruled out for males between C6 and the following 19 marker loci: GPT, HLA+Bf, Rh, C3, Hp, PGM ₃, Km, Gm, Fy, Gc, AB0, Jk, GLO ₁, K, MNSs, PTC, ACP ₁, PGM ₁ and Pi. For several of the relations even loose linkage is unlikely.     

Die Genetik des HL-A-Systems

Zusammenfassung Die Analyse der Gewebstypen von 300 nichtverwandten Personen der österreichischen Bevölkerung und von 110 Familien mit 381 Kindern, die erstmals in diesem Umfang vorgenommen wurde, bestätigt die formalgenetische Hypothese der Vererbung des HL-A-Systems. Dieses System wird über 2 eng gekoppelte Loci eines Autosoms, den LA- und den 4-Locus, gesteuert, wobei an beiden Loci multiple Allelie vorliegt und die einzelnen Merkmale einen dominanten Erbgang aufweisen. Die Genfrequenzen der HL-A-Gene und die Haplotypenfrequenzen wurden errechnet. Die Häufigkeit der Rekombinationen innerhalb des HL-A-Systems wurde mit 0.38% ermittelt. Es wurde kein Anhaltspunkt für eine Selektion bei der Vererbung der HL-A-Merkmale gefunden. Basierend auf den formalgenetischen Untersuchungen wurde die Brauchbarkeit (Vaterschaftsausschlußchance) und die Wertigkeit (Beweiswert) des HL-A-Systems diskutiert. Zur Berechnung der Vaterschaftsausschlußchance wurde eine Formel, die das Koppelungsungleichgewicht der 2 Loci des HL-A-Systems berücksichtigt, entwickelt.

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The genetics of the HL-A-System A study of population and families and its application in paternity cases

Summary 300 unrelated individuals of the Austrian population and 110 families with 381 children have been typed by means of the microlymphocytotoxic test. The analysis of the results of this study shows that the HL-A-antigens are governed by 2 closely linked loci of an autosomal chromosome, the LA-locus with the genesHL-A1, HL-A2, HL-A3, HL-A9, HL-A10, HL-A11, Ba ^*,Li and the 4-locus with the genesHL-A5, HL-A7, HL-A8, HL-A12, HL-A13, R ^*,BB, FJH, MaKi, AA, MaPi, LND andET. Further, it was found that there must exist more antigens, which are not yet serologically detectable, within both loci. The genes of the HL-A-system are inherited as codominant characters. The gene frequencies of the individual determinants and the haplotype frequencies are calculated. The recombination frequency within the HL-A-system was found to be 0.38%. No evidence with regard to a selection could be recognized analysing the inheritence of the HL-A-genes. Basing on the genetical analysis, the efficiency of the HL-A-system in paternity cases is discussed. The chance of exclusion in false accusations of paternity was calculated by means of a formula developed for this purpose, which takes into account the linkage disequilibrium between the LA- and the 4-locus, and was found to be approximatively 76%.

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National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe).     

Chromosome localization and gene synteny of the major histocompatibility complex in the owl monkey,Aotus

Rodent cells were hybridized with owl monkey (Aotus) cells of karyotypes II, III, V, and VI. Aotus-rodent somatic hybrid lines preferentially segregating Aotus chromosomes were selected to determine the chromosomal location of the major histocompatibility complex and other genes with which it is syntenic in man. Based on correlation between concordant segregation of the chromosome as visualized by G-banding and expression of the Aotus antigens or enzymes in independent Aotus-rodent hybrid clones, we have assigned Aotus gene loci for the MHC, GLO, ME₁, SOD₂, and PGM₃ to Aotus chromosome 9 of karyotype VI (2n=49/50), chromosome 10 of karyotype V (2n=46), and chromosome 7 of karyotypes II and III (2n = 54 and 53). On the basis of banding patterns we previously postulated that these chromosomes of the different karyotypes were homologous. The gene assignments reported here provide independent evidence for that hypothesis. Aotus chromosomes 9 (K-VI), 10 (K-V), and 7 (K-II, III) are homologous to human chromosome 6 in that they all code for the MHC, GLO, ME₁, SOD₂, and PGM₃. The structural differences between these homologous chromosomes probably resulted from a pericentric inversion.Abbreviations used in this paper MHC major histocompatibility complex - HLA human lymphocyte antigen - PGM3 phosphoglucomutase-3 - ME₁ cytoplasmic malic enzyme-1 - SOD₂ superoxide dismutase-B - GLO glyoxalase 1 - OMLA owl monkey leukocyte antigens - K karyotype - ₂-M ₂-microglobulin - DMEM Dulbecco's modification of Eagle's medium - PEG polyethylene glycol - HAT hypoxanthine, aminopterin, and thymidine - KC1 potassium chloride - G-band-trypsin Giemsa band     

Localization of the human GLO gene locus

Summary Data on the linkage relation between the GLO locus and the HLA, Bf, and PGM ₃ loci are presented. The family material includes 49 GLO/HLA-B (and/or Bf) segregating matings with 134 children informative on 199 parental meioses. Of phase-known meioses, 3 are recombinants and 75 nonrecombinants; linkage is therefore proven. From the total material a distance of 2.5 cM between GLO and HLA-B/Bf is calculated; and from the segregation in some informative family groups it is shown that GLO is situated between PGM ₃ and HLA-B/Bf.     

PGM<Subscript>3</Subscript>: HL-A is Another Linkage in Man

EARLIER work has suggested the existence of a linkage between the histocompatibility region, HL-A and the phosphogluco-mutase locus, PGM₃. We have now produced more convincing evidence after investigating a further set of families.     

Red cell enzymes of the Pongidae

Summary The red cell enzymes acid phosphatase, adenylate kinase, adenosine deaminase and phosphoglucomutase were analyzed by horizontal starch gel electrophoresis in 43 members of the family Pongidae: Pongo pygmaeus (n=10), Gorilla g. gorilla (n=8), Pan troglodytes (n=22) and Pan paniscus (n=3).In all the Pongidae a red cell acid phosphatase zymogram corresponding to the phenotype B in man was found. The adenylate kinase corresponded to the human phenotype AK 1. All the Pongidae showed the same homozygous adenosine deaminase phenotype which was different from the zymograms in man and was designated ADA ape. In all Pongidae the allele PGM ₁ ¹ was present, in addition in Gorilla g. gorilla a second allele was demonstrated, PGM ₁ ^Go . In Pan troglodytes a second allele, PGM ₁ ^Pan was recognized. In Pongo pygmaeus and Gorilla g. gorilla the PGM₂ patterns differed in their migration rates from PGM₂ 1 in man. In one individual of the species Pan troglodytes a PGM₂ zymogram was found resembling the heterozygous phenotype PGM₂ 3–1, PGM ₂ ¹ PGM ₂ ³, (type Palmer) in man. In all the other individuals of the species Pan troglodytes and in those of the species Pan paniscus the PGM₂ zymogram corresponded to the phenotype PGM₂ 1 in man.

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Zusammenfassung Bei 43 Vertretern der Familie Pongidae, Pongo pygmaeus (n=10), Gorilla g. gorilla (n=8), Pan troglodytes (n=22) und Pan paniscus (n=3), wurden die Erythrocytenenzyme saure Phosphatase, Adenylatkinase, Adenosindeaminase und Phosphoglucomutase mit der horizontalen Stärkegelelektrophorese analysiert. Bei allen Pongiden fanden wir eine saure Phosphatase, die dem Phänotyp B des Menschen entsprach, und eine Adenylatkinase, die dem Phänotyp AK 1 des Menschen glich. Alle Pongiden besaßen das gleiche, einem homozygoten Phänotyp entsprechende Adenosindeaminase-Zymogramm, das sich von den Zymogrammen des Menschen unterschied; wir bezeichnen diesen Phänotyp mit ADA ape. Bei allen Pongiden kommt das Allel PGM ₁ ¹ vor, bei Gorilla g. gorilla zusätzlich ein zweites Allel, PGM ₁ ^Go , und bei Pan troglodytes ein zweites Allel, PGM ₁ ^Pan . Die PGM₂-Zymogramme von Pongo pygmaeus und Gorilla g. gorilla unterschieden sich in ihrer elektrophoretischen Wandergeschwindigkeit vom Phänotyp PGM₂ 1 des Menschen. Bei einem Individuum der Species Pan troglodytes fanden wir ein heterozygotes PGM₂-Zymogramm, das an den heterozygoten Phänotyp PGM₂ 3–1, PGM ₂ ¹ PGM ₂ ³ (Typ Palmer) des Menschen erinnerte, bei allen übrigen Individuen der Species Pan troglodytes und bei denen der Species Pan paniscus ein homozygotes PGM₂-Zymogramm, das dem Phänotyp PGM₂ 1 des Menschen entsprach.

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Supported by the Deutsche Forschungsgemeinschaft.     

Rare phenotypes of the phosphoglucomutase locus 1 detectable by isoelectric focusing on Cellogel

Summary The rare phenotypes PGM₁, determined by alleles PGM ₃ ¹ , PGM ₄ ¹ , PGM ₆ ¹ , and PGM ₇ ¹ were examined by starch gel electrophoresis and cellulose acetate gel isoelectric focusing and were compared with the commonest phenotypes of PGM₁.The frequencies of the rare genes found in the Polish populations were as follows: in Lublin, PGM ₃ ¹ =0.0002, PGM ₄ ¹ =0.0005, PGM ₆ ¹ =0.0010, and PGM ₇ ¹ =0.0005; in Wroclaw, PGM ₃ ¹ =0.0000, PGM ₄ ¹ =0.0005, PGM ₆ ¹ =0.0007, and PGM ₇ ¹ =0.0002.The results suggest that the F and S type variants of the genes PGM ₄ ¹ and PGM ₇ ¹ probably do not occur. It is still possibile that F and S variants exist for the genes PGM ₃ ¹ and PGM ₆ ¹ .     

Substrate affinity in PGM1, PGM2, and PGM3 isozymes

Summary An easy method for routine detection of PGM₁, PGM₂, and PGM₃ isozymes is given. Differences in substrate affinity are discussed. Gene products pgm₁ can be differentiated from gene products pgm₃ by cofactor requirement.     

HL-A population studies in 445 individuals from Hamburg,respecting 8 LA and 15 Four-antigens including U 18 (W 16) and CM (W 18)

Summary By means of 8 LA (HL-A1, HL-A2, HL-A3, HL-A9, HL-A10, HL-A11, Ba^*, Li) and 15 Four-antisera specificities (HL-A5, HL-A7, HL-A8, HL-A12, HL-A13, R^*, BB, MaKi, LND, U 18, MaPi, CM, ET, AA, FJH) 92% of the LA and 92% of the Four-alleles were identified in 445 unrelated people from Northern Germany (Hamburg). The allele frequencies of the more recently described antigens CM and U 18 are 1.3 and 2.6%, respectively. Both alleles are significantly associated with HL-A10.

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Zusammenfassung Bei Verwendung von 8 LA-(HL-A1, HL-A2, HL-A3, HL-A9, HL-A10, HL-A13, Ba^*, Li) und 15 Four-Antiserenspezifitäten (HL-A5, HL-A7, HL-A8, HL-A12, HL-A13, R^*, BB, MaKi, LND, U 18, MaPi, CM, ET, AA, FJH) konnten an 445 nichtverwandten Personen aus dem norddeutschen Raum 92% aller LA- und 92% aller Four-Allele identifiziert werden. Die Allelhäufigkeiten der erst seit kurzer Zeit beschriebenen Allele CM und U 18 betragen 1,3 bzw. 2,6%. Beide Allele zeigen eine signifikant hohe gametische Assoziation zu HL-A10.

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Supported by the Deutsche Forschungsgemeinschaft.     

Cytological mapping of the genes assigned to the human A 1 chromosome by use of radiation-induced chromosome breakage in a human-Chinese hamster hybrid cell line

Summary A human-Chinese hamster hybrid cell line was treated with X-rays and subsequently cloned. In two clones, segregation between three markers assigned to the human A1 chromosome (6-phosphogluconate dehydrogenase, phosphoglucomutase 1 and peptidase C) was found. Chromosome analysis revealed an aberrated human A1 chromosome in both clones. The results suggest the following gene sequence on chromosome A1: 6 PGD, PGM₁ (on the short arm), Pep C (on the long arm).

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Zusammenfassung Eine Zell-Linie (Hybride zwischen Zellen vom Menschen und vom Chinesischen Hamster) wurde mit R?ntgenstrahlen behandelt und anschlie?end kloniert. In zwei Klonen wurde eine Aufspaltung bei drei Markern beobachtet, die zum menschlichen A1-Chromosom geh?ren (6-Phosphogluconat-Dehydrogenase; Phosphoglucomutase 1; Peptidase C). Die Chromosomenanalyse zeigte ein aberrantes menschliches A1-Chromosom in beiden Klonen. Die Ergebnisse legen die folgende Reihenfolge nahe: 6 PGD; PGM₁ (auf dem kurzen Arm); Pep C (auf dem langen Arm).

     

Results of haptoglobin types investigations in Hungary

Summary This is report about the PGM and PGD isozymes that are present in sperm cells. 4 isozymes that are controlled by the PGM₁ alleles can be detected regularly. Only one isozyme is identified as a product of the PGM ₂ ¹ gene. The isozymes that are controlled by the PGM₃ locus are detected at regular intervals. PGD patterns differ only slightly from those of red cells.

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Zusammenfassung Es wird über die PGM- und PGD-Isoenzyme, die in Spermatozoen vorkommen, berichtet. Als Produkte der PGM₁-Allele lassen sich regelmäßig 4 Isoenzyme erkennen. Nur ein Isoenzym ist erkennbar, welches dem PGM ₂ ¹ -Gen zugeordnet werden kann. Weiterhin lassen sich regelmäßig die Isoenzyme des PGM₃-Locus erkennen. Die PGD-Muster in Spermapherogrammen ähneln denen aus Erythrocytenhämolysaten.

     

Polymorphism of erythrocyte phosphoglucomutase,adenylate kinase and adenosine deaminase in northern Thailand

Summary Phenotypes of the erythrocyte enzymes phosphoglucomutase (PGM) (n-587), adenylate kinase (AK) (n=695), and adenosine deaminase (ADA) (n=616) were determined by horizontal starch gel electrophoresis in Thai subjects from norther Thailand, mainly from the provinces of Chiang Mai and Lamphun. The following gene frequencies were calculated: PGM ₁ ¹ 0.7385 PGM ₁ ² 0.2487 PGM ₁ ⁶ 0.0102 PGM ₁ ⁷ 0.0026, AK ¹ 0.9950 AK ² 0.0050, ADA ¹ 0.9180 ADA ² 0.0820.The regular, apparently autosomal transmission of the PGM ₁ ⁶ and PGM ₁ ⁷ alleles was demonstrated in 7 families revealing sufficient data.

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Zusammenfassung Die Phänotypen der Erythrocytenenzyme Phosphoglucomutase (PGM) (n=587), Adenylatkinase (AK) (n=695), and Adenosindeaminase (ADA) (n=616) wurden mittles horizontaler Stärkegelelektrophorese bei Thailändern aus Nordthailand, hauptsächlich aus den Provinzen Chiang Mai und Lamphun, bestimmt. Auf Grund der Ergebnisse wurden die in der englischen Zusammenfassung angegebenen Genfrequenzen berechnet. Die regelmäßige, anschinend autosomale Vererbung der Allele PGM ₁ ⁶ und PGM ₁ ⁷ wurde in 7 Familien mit ausreichenden Daten nachgewiesen.

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Established and supported by Stiftung Volkswagenwerk.     

Effects of various metabolites on two phosphoglucomutase allozyme activities from Drosophila melanogaster

The effects of various metabolites on the two most common phosphoglucomutase allozymes (PGM^A and PGM^B) in Drosophila melanogaster have been investigated in vitro. 2,3-Diphosphoglycerate (2,3DPG) inhibited PGM^A and PGM^B to the same degree in the presence of 25 µM glucose-1,6-diphosphate (G1, 6P₂). However a higher concentration of G1,6P₂ partially reversed the inhibition of PGM^A exerted by 2,3DPG, so that in the presence of 150 µM G1,6P₂ the inhibition of PGM^A was half that of PGM^B at pH 6.0. Glycerol-3-phosphate (G3P) had no significant effect at pH 7.4 but exerted an activating effect at pH 6.0 which was more pronounced in the case of PGM^B. ATP, citrate, and fructose-1, 6-diphosphate (F1,6P₂) inhibited both PGM^A and PGM^B. The differences found in vitro between these two allozymes can have a significant impact on in vivo function and, therefore, on the maintenance of PGM polymorphism in experimental populations of D. melanogaster studied in the laboratory.     

On the incidence of blood group O and Gm(−1) phenotypes in patients with malignant melanoma

Summary Fifteen polymorphic systems of the blood (ABO, MNSs, Rhesus, P, Kell, Duffy, Kidd, Hp, Gc, Gm, Inv, aP, PGM₁, EsD, and 6-PGD) were examined in 191 unrelated male and female patients suffering from malignant melanoma. These polymorphic systems were compared with the corresponding phenotype and gene frequencies of controls from the same geographical area (Rhineland-Palatinate). The only associations discovered were the ABO and Gm polymorphisms: The incidence of O and Gm(-1) phenotypes in patients is obviously higher than in controls. These observations agree with the findings in other population samples from Germany and Bulgaria.