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[Histochemical differentiation of the cytoplasmic and mitochondrial enzymatic activities in bone marrow cells].
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[Congenital non-spherocytic hemolytic anemia by 2,3-diphosphoglycerate mutase deficiency of the erythrocytes in early infancy].
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[Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations].
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[Biochemical and cytochemical characterization of reticulocytes and pseudoreticulocytes].
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Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin.
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Comments on the determination of isoenzyme polymorphism (ADA, AK, 6-PGD, PGM) by cellulose acetate electrophoresis.
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Galactose-1-phosphate in human red blood cells during continuous galactose infusion.
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PGM1 subtypes determined by agarose gel isoelectrofocusing.
PGM1 subtypes were determined in red cell hemolysates by isoelectric focusing on agarose gel plates. By this modified procedure PGM1 subtypes may be readily classified. Nine of the 10 expected phenotypes were found in a sample of 470 unrelated individuals from Southern Germany. The frequencies for the four alleles were found to be: PGM1(1+) = 0.212, PGM1(1-) = 0.1224, PGM1(2+) = 0.2043, PGM1(2-) = 0.0521.
Study of red cell enzyme systems in Tehran and Isfahan Iranians.
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The genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: II. Studies of genetic markers in blood.
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The distribution of some serum protein and red cell enzyme polymorphisms in the Koch ethnic group of West Bengal, India.
Three populations (Poliya, Deshi, and Tiyor) of the Koch ethnic group have been studied for the distribution of three serum protein and four red cell enzyme polymorphisms. There was no significant difference in the allelic frequencies of these systems in the three populations of the Koch ethnic group. The overall gene frequencies were as follows: Hp1, 0.21; Gc1F, 0.34; Gc1S, 0.36; Gc2, 0.30; TfC1, 0.66; TfC2, 0.26; TfC3, 0.001; TfD, 0.06; GLO1, 0.21; PGI2, 0.04; AK2, 0.01; PGM1+, 0.80; PGM1-, 0.06; PGM2+, 0.11 and PGM2-, 0.02. The phenotypic distribution at all the loci was at Hardy-Weinberg equilibrium.
Reduction of biochemical polymorphisms in honeybees (Apis mellifica).
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Genetic polymorphisms and intrauterine development. Evidence of decreased heterozygosity in light-for-dates human newborn babies.
In 2 independent samples of low-birth-weight infants the proportion of females and homozygotes for a series of polymorphic systems was higher in light-for-dates than in preterm babies. The observation seems to give support to the hypothesis that homozygosity for 'normal' polymorphisms may decrease in general intrauterine growth rate. Since it is known that survival rate is strongly related to birth weight, a correlation between growth retardation and homozygosity may have a major role in the maintenance of such polimorphisms.
[Documentation of forensic blood typing data].
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[Determination of PGM 1 phenotypes in seminal stains].
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A study of ten red cell enzymatic markers in the Naples' population. Report of a new GPT variant phenotype.
A sample of the population of Naples has been examined for several red cell enzyme markers. About 2,000 newborn have been analyzed for ACP, GLO I, and UMPK; 1,000 of them were also analyzed for PepA and PepB, and 500 for PGM1 and PGM2. In addition about 400 school children have been typed for the PGD and PGP polymorphisms. The observed gene frequencies for the polymorphic systems are: ACPA = 0.293, ACPB = 0.667 and ACPC = 0.040; GLO1 = 0.372; GPT2 = 0.462; UMPK2 = 0.029; PGM21 = 0.279; PGDC = 0.037; PGP1 = 0.953, PGP2 = 0.038 and PGP3 = 0.009. Moreover during the screening of PepA, PepB and GPT markers, some rare alleles have been encountered, one of which, at the GPT locus, has never been reported before. We propose for it the name GPT10.
[Red cell enzyme polymorphisms in forensic serology].
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