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.     

PGM1 and Gc subtype gene frequencies in a California Hispanic population.

The gene frequencies of the subtypes of the Gc (group-specific component) protein and PGM1 (phosphoglucomutase) enzyme systems have been determined by means of isoelectric focusing for a California Hispanic population (no. = 404). The Gc subtyping, done by immunofixation on a polyacrylamide gel, gave the following results: 1s = 0.491; 1f = 0.288; 2 = 0.218; variant = 0.0025. The PGM subtyping, done on agarose gel, gave results as follows: 1+ = 0.502; 1- = 0.266; 2+ = 0.128; 2- = 0.104. Because the gene frequencies for Hispanics in both these systems are relatively evenly balanced, the systems are of great value in Hispanic paternity investigations. The average power of exclusion is calculated to be 34.4% (Gc subtyping) and 39.8% (PGM1 subtyping).     

Investigation of PGM13, PGM16, and PGM17 variants by isoelectric focussing. Evidence for new subtypes of the PGM 1 3 and PGM 1 7 alleles

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.     

Molecular genotyping of N-acetylation polymorphism to predict phenotype

Summary N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype in 51 Japanese. Then we performed Southern blot analysis of genomic DNA from these subjects using ³²P-labeled cDNA for polymorphic N-acetyltransferase in the liver, and found that four N-acetyltransferase alleles generated six genotypes. The present genotyping method predicted the rapid, intermediate, and slow acetylators correctly in 48 of 51 overall subjects (96%) and in all of 4 slow acetylators.     

Alpha-2-HS-glycoprotein phenotype frequencies in Cook Islanders

The polymorphism of the alpha 2-HS-glycoprotein (A2HS) was analysed in Rarotonga and Mangaia, the Cook Islands. The A2HS*2 frequency was found to be the highest value among all populations studied up to now. There was a significant difference in A2HS*2 gene frequencies between the two populations, Rarotonga (0.62) and Mangaia (0.76).     

Some red cell enzyme phenotype frequencies in Chinese

Summary Eight enzymes: phosphoglycerate kinase, soluble glutamic oxaloacetic transaminase, glutamic-pyruvic transaminase, isocitric dehydrogenase, adenosine deaminase, peptidase A, peptidase B, and indophenol oxidase were examined electrophoretically in red cells from 160 Taiwanese samples. Only GPT and ADA were found to exhibit polymorphism, the gene frequency for GPT¹ and ADA¹ being about 0.51 and 0.95 respectively. No S-GOT variation was identified in this particular population, although an atypical gene frequency of 0.02 was anticipated from prior surveys of Asiatic groups. These samples were collected in 1960 and preserved in glycerol indicating that meaningful results can be obtained on specimens stored for prolonged periods.

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Zusammenfassung Acht Enzyme wurden in roten Blutzellen von 160 Bewohnern von Taiwan bestimmt: Phosphoglycerat-Kinase; lösliche Glutamin-Oxalessigsäure-Transaminase (S-GOT); Glutamin-Brenztramidensäure-Transaminase (GPT); Isocitronensäure-Dehydrogenase; Adenosin-Deaminase (ADA); Peptidase A; Peptidase B; Indophenol-Oxidase. Nur GPT und ADA zeigten einen Polymorphismus; die Genhäufigkeiten für GPT¹ und ADA¹ lagen bei 0,51 bzw. 0,95. Bei dieser speziellen Bevölkerung wurde keine Variation der S-GOT festgestellt, obwohl eine Genhäufigkeit für das atypische Allel von 0,02 auf Grund früherer Untersuchungen bei asiatischen Bevölkerungen erwartet worden war. Die untersuchten Stichproben waren 1960 gesammelt worden und wurden seitdem in Glycerin aufbewahrt. Dies zeigt, daß vernünftige Ergebnisse auch mit Blutproben erarbeitet werden können, die für längere Zeit aufbewahrt wurden.

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Supported by Public Health Service grant AM 09745 and by grant GM 15253 from The National Institute of Health.     

Gene frequencies of the enzymes ALADH, GOT2, GPT, PGM3, SAHH and UMPK in a Swiss population

The polymorphisms of the enzymes ALADH, GOT2, GPT, PGM3, SAHH, and UMPK have been studied in a population of Northern Switzerland (Zürich). The results are compared with those of other European populations.     

Gene frequencies of adenylatekinase polymorphism in the Roman population

Summary The red cell AK phenotypes of 841 hemolysates from unrelated individuals living in Rome have been determined by the starch gel electrophoretic method of Fildes and Harris (1966). The observed gene frequencies were: AK ¹=96.3 and AK ²=3.7.Supported by a grant of the Consiglio Nazionale delle Ricerche (CNR).     

PGM1 subtype polymorphism in 14 endogamous Dravidian-speaking populations of South India

Red cell hemolysates from 1,004 persons belonging to 14 population groups drawn from four South Indian states, Andhra Pradesh, Tamil Nadu, Karnataka, and Kerala, were tested for PGM1 subtypes. The groups are characterized by a high frequency of phenotype 1+1+ (range 36.98-71.64%) and the allele 1+ (range 60-79%). The groups exhibit marked heterogeneity for PGM1 locus. The results show a clear demarcation between tribes and Brahmin groups.     

Nasal region polymorphism frequencies in the FrankfurtPan troglodytes verus collection

The results of a morphometric study on the mid-facial region in a collection of 278Pan troglodytes verus skulls are reported. Upwardly divergent nasal bones were found in 35 of the 124 specimens (28.2%) in which this feature could be analyzed. Appreciable separation (1 cm. or more) between nasion and glabella characterized 13 of the 154 skulls (8.4%) in which both these osteometric points could be observed. These findings document the wide ranges of variation that are normally to be found in modest-sized population samples of hominoid primates, and point to the inherent unreliability of cladistic analyses based on the hypothesis that hominoid primate taxa are monomorphic for these character states in the nasal region.