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1.
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. 相似文献
2.
Summary An obviously new phosphoglycolate phosphatase (PGP) gene product (PGP*Sumatra) was detected by use of horizontal starch gel electrophoresis (SGE). The observed phenotype PGP (1-Sumatra) can be distinguished from any known PGP type. 相似文献
3.
Summary One hundred and sixty-seven blood donors, 26 families with 72 offspring and 12 motherchild couples were studied for the phosphoglycolate phosphatase polymorphism. In hemolysates, the isozymes are stable for at least five weeks. The distribution of observed phenotypes in the population study did pot diverge from the expected values according to Hardy-Weinberg law. In the family study, the formal genetic model of three alleles—PGP
1, PGP
2 and PGP
3 at one autosomal locus-could be confirmed. Among 33 individuals from a Mongoloid population PGP 1 was observed in 100%. This observation lead us to the conclusion, based also on recent data in Negroid populations (Barker and Hopkinson 1978), that phosphoglycolate phosphatase may be a more recent polymorphism of Caucasoid populations. Linkage studies with the hp locus an chromosome 16 resulted in 19 meiotic divisions of 4 informative families in a lod score peak of 0.23 at =0.25 being inconclusive. The inclusion of the PGP system in paternity testing is also discussed. 相似文献
4.
Summary This study confirms close linkage for the GLO-Bf-HLA-B,C,A complex, and proves linkage between the MHC loci and PGM3. For GLO-PGM3 and Bf-PGM3, respectively, loose linkage seems to be likely, and close linkage can be excluded. Our mapping data on chromosomle 6 favor the hypothesis that the PGM3 locus is situated on the HLA-A side of the MHC complex. Yet fine-structure mapping should be confirmed only by segregation analyses in crossover families by testing simultaneously all of the relevant marker loci within uniform family material. 相似文献
5.
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
. 相似文献
6.
Ans Jongsma Harry van Someren Andries Westerveld Ann Hagemeijer Peter Pearson 《Human genetics》1973,20(3):195-202
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.
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.相似文献
7.
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. 相似文献
8.
Polymorphic analysis of human phosphoglucomutase-3 (PGM3) has been carried out from the level of the gene product. Due to a weak zymogram, leading to ambiguity in phenotyping, information on the PGM 3 locus has rarely been reported. In this study, the missense mutation G1396A, confirmed to underlie common phenotypes of PGM3, was identified by performing mismatched PCR–RFLP. Population data on the PGM 3 locus was also obtained for the first time in China. The allele frequency distribution was PGM 3 *1 = 0.625, PGM 3 * 2 = 0.375, and no deviation from Hardy–Weinberg equilibrium was observed. The application of the information in both genetics and forensic medicine demonstrated that the polymorphism information content was 0.5163, heterozygosity 0.4872, power of discrimination 0.5986, and probability of paternity exclusion 0.1794. Polymorphic analysis of the locus at the DNA level will also provide significant data for disease susceptibility and linkage analysis. 相似文献
9.
Summary Phosphoglucomutase1 (PGM1) polymorphism was studied in a French-Canadian population of Québec city, Canada by means of a low voltage (max 500 V) isoelectric focusing (IEF) procedure on vertical polyacrylamide gel slabs. Frequencies of the four common PGM1 genes estimated from the phenotype distribution in 308 unrelated individuals were PGM
1
1+
, 0.61 (±0.02); PGM
1
1-
, 0.13 (±0.01); PGM
1
1+
, 0.61 (±0.02); PGM
1
1-
, 0.18 (±0.02); and PGM
1
1+
, 0.61 (±0.02); PGM
1
1-
, 0.08 (±0.01). The segregation patterns observed in 154 families, which included 31 different mating types and 353 children, confirmed a Mendelian inheritance of four autosomal genes. The distribution of the PGM1 phenotypes observed or expected in a Hardy-Weinberg equilibrium was compared with that of other populations. A significant (P<0.001) difference was found between the Québec population and a Black population from Keneba, Gambia, West-Africa. 相似文献
10.
Frederic H. Menko Olav L. M. Bijvoet P. Meera Khan Laurens E. Nijenhuis Erna v. Loghem Icke Schreuder Luigi F. Bernini Jan C. Pronk Kamlesh Madan Lodewijk N. Went 《Human genetics》1984,67(4):452-454
Summary By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and HLA, 10cM from JK and PI, and 5cM each from ACP1, AK1, ADA, GPT1, and PGP. 相似文献
11.
Summary A total of 345 haemolysates previously phenotyped by starch gel electrophoresis and known to contain the products of the PGM
1
3
, PGM
1
6
, and PGM
1
7
alleles have been analyzed by thin layer polyacrylamide gel isoelectric focussing in the pH range 5–7. Two common subtypes, 3+and 3-, of the PGM
1
3
allele have been found in a number of Pacific populations. A single form of the PGM
1
7
allele was observed in the Western Caroline Islands. In contrast, one of two Indian PGM17 variants focussed to a different position when compared with the form found at polymorphic frequency in the Western Caroline Islands. Only one type of the PGM
1
6
allele was detected during the present investigation. 相似文献
12.
Summary The chromosomal locations for the electrophoretic markers hydroxyacyl glutathione hydrolase (HAGH) and phosphoglycolate phosphatase (PGP) were examined using a human-mouse hybrid panel of chromosome 16. The assignment for HAGH was confirmed to chromosome 16 using a cell line with chromosome 16 as the only human chromosome. Both HAGH and PGP were present only in cell lines containing human 16p13. This localisation for PGP indirectly places the tightly linked genes for the alpha-globin cluster and adult polycystic kidney disease on 16p13. 相似文献
13.
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.
Supported by the Deutsche Forschungsgemeinschaft. 相似文献
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.
Supported by the Deutsche Forschungsgemeinschaft. 相似文献
14.
R. Scozzari C. Iodice D. Sellitto R. Brdicka G. Mura A. S. Santachiara-Benerecetti 《Human genetics》1984,68(4):314-317
Summary The electrophoretic and thermostability polymorphisms of the PGM
1 locus were examined in about 700 Czechoslovakians (Prague) and 3000 Italians. The Italian sample consisted of individuals from Pavia (Northern Italy), Viareggio and Rome (Central Italy) and Naples (Southern Italy). The eight PGM
1 alleles, PGM
1
1Str
, PGM
1
1Sts
, PGM
1
1Ftr
, PGM
1
1Fts
, PGM
1
2Str
, PGM
1
2Sts
, PGM
1
2Ftr
, PGM
1
2Fts
, have been considered as combinations of mutations at three different sites, 1/2 S/F and tr/ts, within the PGM
1 gene and their frequencies discussed in terms of linkage disequilibrium between these sites. All pairwise differences between the samples were significant except for Pavia-Viareggio and Viareggio-Rome. The frequencies of the PGM
1
ts
alleles have been found to range from 0.0981 (Prague) to 0.0546 (Naples) and can be ordered according to a North-South cline.This paper is dedicated to Professor Giuseppe Montalenti in occasion of his 80th birthday 相似文献
15.
Summary In 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.
Zusammenfassung Koppelungsuntersuchungen 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.相似文献
16.
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. 相似文献
17.
Zusammenfassung Etwa 600 moçambiquanische Eingeborene, vorwiegend Chuabo und Macua wurden auf folgende Blutgruppensysteme bzw. Merkmale untersucht: A B 0, M N S s Su, C Cwc D E e, K k KpaJsaJsb, P1, FyaFybFy, JkaJkb, Lea, Dia, Gc, SEPh, PGM1, PGM2 und ADA.Im Durchschnitt gesehen überwiegen die typischen Negermerkmale bei den Moçambiquanern mehr als bei anderen negriden Populationen. Signifikante Unterschiede zwischen verschiedenen Stämmen, insbesondere zwischen Macua, Chuabo, Bitonga und Changane, wurden nicht gefunden. In nahezu allen Systemen unterschieden sich dagegen die leprösen von den nichtleprösen Macua mehr oder weniger deutlich. Im AB0-, MNSSus-, Rhesus-, Lewis-, Gc- und PGM-System sind die Unterschiede sogar signifikant. Zur Zeit haben wir keine Erklärung für diese Befunde.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft. 相似文献
Blood groups and lepra in populations of moçambique
Summary About 600 natives of Moçambique, preferably Chuabo and Macua were tested for the following blood group systems, resp. markers: A B 0, M N S s Su, C Cwc D E e, K k KpaJsaJsb, P1, FaaFybFy, JkaJkb, Lea, Dia, Gc, SEPh, PGM1, PGM2 and ADA.The typical blood group markers for negroes were found to a higher extent than in nearly all the other negroid populations. Significant differences between the single tribes of Moçambique, especially between Macua, Chuabo, Bitonga and Changane were not found. In almost all systems, however, marked differences between leprous and non-leprous Macuas could be detected. These were statistically significant in the AB0-, Rhesus-, Lewis-, Gc- and P.GM-system. At this time no explanation for these findings can be given.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft. 相似文献
18.
Zusammenfassung Die an 274 Türken und einer mehrfachen Zahl Deutscher (787–5030) durchgeführten Untersuchungen ergaben eine etwas größere Häufigkeit des Gens Hp1 im Raum Köln und eine größere des Gens Inv1 im Raum Freiburg i. Br. Bei Türken sind die Allele Hp2, Gm1, Pb und PGM2 häufiger, die Allele Hp1, Gm1,2, Pa, Pc und PGM1 seltener als bei Deutschen. Die Frequenzen im Gc- und AK-System stimmen überein.
(Direktor: Prof. Dr. R. Haas)
(Direktor: Prof. Dr. G. Pulverer)
(Direktor: Prof. Dr. C. Bennholdt-Thomsen) 相似文献
Summary There was found a higher frequency of Hp1 and a lower of Inv1 in the population of Cologne than in the population of Freiburg. The frequencies of Hp2, Gm1, Pb and PGM2 in the Turkish population were found to be higher than those in the German population; the frequencies of Hp1, Gm1,2, Pa, Pc and PGM1 were found to be lower. In the systems Gc and AK the frequencies in the two populations are not significantly different.
(Direktor: Prof. Dr. R. Haas)
(Direktor: Prof. Dr. G. Pulverer)
(Direktor: Prof. Dr. C. Bennholdt-Thomsen) 相似文献
19.
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.
National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe) 相似文献
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.
National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe) 相似文献
20.
Summary Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1(Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM
3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for Amy2. Three types of variants were observed for Amy1, one type for Amy2. Only Indians were found to be polymorphic for Amy1. Two GOT
s 2-1 and three GOT
m 2-1 variants were found among 281 Chinese while three GOT
m 2-1 variants were found among 311 Malays.Malaysian Malays, Chinese, and Indians were found to be polymorphic for Set-1 and PGM
3. The gene frequencies in Malays are Set-1F=0.601±0.021, Set-1S=0.399±0.021; PGM
3
1
=0.788±0.020, PGM
3
2
=0.212±0.020; in Chinese Set-1F=0.497±0.028, Set-1S=0.503±0.028; PGM
3
1
=0.745±0.024, PGM
3
2
=0.255±0.024; in Indians, Set-1F=0.449±0.031, Set-1S=0.551±0.031; PGM
3
1
=0.755±0.029, PGM
3
2
=0.245±0.029. 相似文献