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Erythrocyte phosphoglucomutase: A family study of a PGM1 deficient allele

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We have observed a large Mexican American family segregating for a low activity allele at the phosphoglucomutase-1 locus. The deficient allele is detectable by starch gel electrophoresis and by direct activity determination. The presence of the deficient allele in either the homozygous or heterozygous condition is not associated with any other phenotypic finding.

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  1. Beutler E (1975) Red cell metabolism. Grune and Stratton, New York, pp 79–81

  2. Brinkman B, Koops E, Klopp O, Heindl K, Rudiger HW (1972) Inherited partial deficiency of the PGM1 gene: biochemical and densitometric studies. Ann Hum Genet 35:363–366

  3. Brinkman B, Riemann U, Heide KG, Sachs HW, Walcher A, Heindl K, Hoppe HH (1973) Demonstration of the silent allele PGM1 o in three families and description of a new variant. Z Rechtsmed 73:207–217

  4. Fiedler H, Pettenkofer H (1968) Ein “neuer” Phänotyp im Isoenzymsystem der Phosphoglukomutasen des Menschen (PGM1 o). 1. Mitteilung. Blut 18:33–34

  5. Fiedler H, Pettenkofer H (1969) Ein “neuer” Phänotyp im Isoenzymsystem der Phosphoglukomutasen des Menschen (PGM1 o). 2. Mitteilung. Blut 18:358–362

  6. Gahr M, Schroter W (1981) Red cell phosphoglucomutase (PGM) deficiency: hereditary defect of the PGM1 locus. Eur J Pediatr 136:63–65

  7. Hanis CL, Ferrell RE, Barton SA, Aguilar L, Garza-Ibarra A, Tulloch BR, Garcia CA, Schull WJ (1983) Diabetes among Mexican Americans in Starr County, Texas. Am J Epidemiol 118:659–672

  8. Harris H (1975) The principles of human biochemical genetics, 2nd edn. North-Holland, Amsterdam, pp 60–69

  9. Herzog P, Libich M (1982) A new case of a silent allele in the PGM1 system. Hum Hered 32:293–295

  10. Horai S (1974) A case of partial deficiency in red cell PGM isozyme. Nippon Hoigaku Zasshi=Jpn J Legal Med 28:259

  11. Kaplan J-C, Alexandre Y, Dreyfus J-C (1970) Deficit selectif d'un des loci genetiques de la phosphoglucomutase dans les globules rouges. C R Seances Acad Sci (III) 270:1061–1063

  12. Keats BJB, Morton NE, Rao DC, Williams WR (1979) A source book for linkage in man. Johns Hopkins University Press, Baltimore, pp 173–174

  13. Lucarini N, Discepoli L, Nicotra M, Pascone R, Balducci M, Falsi AM (1979) Ricera di selexione sul polimorfismo del PGM1 durante la vita intrauterina. Atti Assoc Genet Ital 24:188–189

  14. Martin W (1983) Consideration of “silent genes” in the statistical evaluation of blood group findings in paternity testing. In: Inclusion probability in parentage testing. American Association of Blood Banks, Arlington, pp 245–257

  15. Mohrenweiser HW (1981) Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci USA 78:5046–5050

  16. Polesky HF, Souhrada JM, Dykes DD (1983) The frequency of “null” genes calculated from trios in disputed parentage cases. In: 10th Int. Cong. Sco. Forensic Haemogenetics Proc. Lectures, Munich, pp 161–166

  17. Quick CB, Fisher RA, Harris H (1972) Differentiation of the PGM2 locus isozymes from those of PGM1 and PGM3 in terms of phosphopentomutase activity. Ann Hum Genet 35:445–454

  18. Quick CB, Fisher RA, Harris H (1974) A kinetic study of the isozymes determined by the three phosphoglucomutase loci, PGM1, PGM2 and PGM3. Eur J Biochem 42:511–517

  19. Seger PJ, Salmon C (1971) Segregation atypique de la phosphoglucomutase (PGM1) dans deux generations succesives, impliquant l'existence de l'allele silencieux PGM1 o. Nouv Rev Fr Hematol 11:373–376

  20. Schon R, Thalhammer O (1977) False-positive galactosaemia screening. Lancet I:43

  21. Spencer N, Hopkinson DA, Harris H (1964) Phosphoglucomutase polymorphism in man. Nature 204:742–745

  22. Ueno S, Yoshida H, Kiribayashi K, Omoto K (1976) The demonstration of the silent PGM1 allele in a Japanese family. Jinrui Idengaku Zasshi 21:79–84

  23. van Kampen EJ, Zijlstra WG (1961) Standardization of hemoglobinometry. II. The hemiglobincyanide method. Clin Chim Acta 6: 538–544

  24. Wendt GG, Kirchberg G, Rube M, Ritter H (1971) Problematischer Mutter-Kind-Ausschluß mit PGM1. Humangenetik 11:171–174

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Correspondence to Robert E. Ferrell.

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Ferrell, R.E., Escallon, M., Aguilar, L. et al. Erythrocyte phosphoglucomutase: A family study of a PGM1 deficient allele. Hum Genet 67, 306–308 (1984). https://doi.org/10.1007/BF00291358

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  • Starch
  • Internal Medicine
  • Metabolic Disease
  • Direct Activity
  • Family Study