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Results for “PHOSPHOGLUCOMUTASE”

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At least 361 records · Page 20Linked to original sources
PubMed1977

Determination of phenotypes of phosphoglucomutase (PGM1) in bloodstains by cellulose acetate electrophoresis.

A good separation of PGM1 isoenzymes from bloodstains has been obtained with an adapted Sonneborn method of electrophoresis on cellulose acetate. This method requires very small quantities of the examined material, a short time of electrophoresis, and is cheaper and simpler than hitherto described. A correct determination of PGM1 phenotypes from bloodstains was easy up to 24 weeks. Occasionally it was possible to determine phenotypes in bloodstains as old as 47 weeks, and in one case even in bloodstains 126 weeks old. This method may be useful in the forensic serology for determination of PGM1 phenotypes from bloodstains.

Blood Stains↗
PubMed1975

Types of enzymatic overdosing in trisomy 21: erythrocytic superoxide dismutase-AJ and phosphoglucomutase.

A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equalt to 1.4. SOD-A supraactivation is the effect of a genic dose, as demonstrated in earlier works (Sichitiu, 1973; Sichitiu et al., 1974; Sinet et al., 1974), whereas PGM hyperactivity appears to be modified secondarily, the same as the activity of other cellular enzymes in Down's disease.

Chromosomes, Human, 21-22 and Y↗
PubMed1978

Isoelectric focusing of human red cell phosphoglucomutase: the distribution of variant phenotypes in a village population from the Gambia, West Africa.

A total of 637 individuals from the rural village of Keneba in The Gambia, West Africa, have been typed for red cell PGM using isoelectric focusing (pH 5--7) in polyacrylamide gels. Eight different phenotypes have been detected. The frequency of the four alleles at the PGM1 locus was found to be PGM1+(1) 0.795, PGM1-(1) 0.053, PGM2+(1) 0.133, AND PGM2-(1) 0.019. A study of the PGM phenotypes in 89 families confirmed the simple Mendelian codominant inheritance of the four alleles. Comparative population data suggest that red cell PGM typing by isoelectric focusing might prove to be a useful genetic marker in anthropological studies.

Black People↗
PubMed1981

Isoelectric focusing of red cell phosphoglucomutase (E.C.: 2.7.5.1) at the PGM1 locus in a French-Canadian population.

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 PGM1(1+), 0.61 (+/- 0.02); PGM1(1-), 0.13 (+/- 0.01); PGM1(2+), 0.18 (+/- 0.02); and PGM1(2-), 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.

Alleles↗
PubMed1981

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

The rare phenotypes PGM1, determined by alleles PGM1(3), PGM1(4), PGM1(6), and PGM1(7) 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, PGM1(3) = 0.0002, PGM1(4) = 0.0005, PGM1(6) = 0.0010, and PGM1(7) = 0.0005; in Wrocław, PGM1(3) = 0.0000, PGM1(4) = 0.0005, PGM1(6) = 0.0007, and PGM1(7) = 0.0002. The results suggest that the F and S type variants of the genes PGM1(4) and PGM1(7) probably do not occur. It is still possible that F and S variants exist for the genes PGM1(3) and PGM1(6).

Adult↗
PubMed1980

Subtypes of the phosphoglucomutase-1 (PGM1) locus detectable in Polish populations by isoelectric focusing on cellogel.

The technique of isoelectric focusing on methylated 'cellogel' strips (CAGIF) was used to confirm the presence of four alleles of PGM1 in human red cell lysates. The subtypes of PGM1 were determined in two Polish population samples, from Southwestern Poland (Wrocław region, n=321) and Southeastern Poland (Lubin region, n=212). Ten different phenotypes are considered as gene products of four alleles at PGM1, with the following frequencies: Wrocław: PGM1F, 0.1044; PGM1S, 0.5966; PGM2F, 0.0685; and PGM2S, 0.2305; Lublin: PGM1F, 0.1439; PGM1S, 0.6014; PGM2F, 0.0825; and PGM2S, 0.1722.

Electrophoresis, Cellulose Acetate↗