Abstract
PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.
Similar content being viewed by others
References
Alper C. A. &Propp R. P., 1968.Genetic polymorphism of the third component of human complement (C'3). Journal of Clinical Investigation, 47: 2181–2191.
Altland K., Hackler R. &Knoche W., 1980.Double one-dimensional electrophoresis of human serum transferrin: a new high-resolution screening method for genetically determined variation. Human Genetics, 54: 221–231.
Bargagna M. &Abbagnale L., 1982.Isoelectric focusing of human red cell phosphoglucomutase (PGM 1). Phenotype distribution in the population of Tuscany and two hereditary variants. Human Genetics, 61: 242–245.
Bark J. E., Harris M. J. &Firth M., 1976.Typing of common phosphoglucomutase variants using isoelectric focusing: a new interpretation of phosphoglucomutase system. Journal of the Forensic Science Society, 16: 115–120.
Barreca F., 1979.La Sardegna fenicia e punica. Chiarella (ed.), Sassari.
Carfagna M., Gaudio L., Patricolo M. R. &Spadacenta F., 1976.Pancreatic Amylase polymorphism: another example of a distinctive gene frequency among Sardinians. Human Heredity, 26: 59–65.
Carracedo A. &Concheiro L., 1982.PGM 1 subtypes in Galicia (NW Spain). Human Heredity, 32: 133–135.
Casanova M., Leroy P., Boucekkinec, Weissenbach J., Bishop C., Fellous M., Purrello M., Fiori G., &Siniscalco M., 1985.A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science, 230: 1403–1406.
Cavalli-Sforza L. L. &Bodmer W. F., 1971. The genetics of human populations. pp. 704–717. W. H. Freeman and Co., San Francisco.
Chagnon Y. C., Bouchard C. &Allard C. 1981.Isolectric focusing of red cell phosphoglucomutase (E.C. 2.7.5.1.) at the PGM 1 locus in a French-Canadian population. Human Genetics, 59, 36–38.
Constans J., Kühnl P., Viau M. &Spielmann W., 1980.A new procedure for the determination of Transferrin C (Tf C)subtypes by isoelectric focusing. Existence of two additional alleles, Tf C4 and Tf C5 Human Genetics, 55: 111–114.
Constans J. &Salzano F. M., 1980.Gc and Transferrin isoelectrofocusing subtypes among Brazilian Indians. Journal of Human Evolution, 9: 489–494.
Constans J., Viau M., Jaeger G. &Palisson M. J., 1981. Gc, Tf, Hp subtype and α1-antitrypsin polymorphism in a Pygmy Bi-Aka sample. Phenotype association between TfD1 and Gc 1A1 (Gc Ab)variants. Human Heredity, 31: 129–137.
Corbo R. M., Palmarino R., Spennati G. F., Pascone R. &Lucarelli P., 1980.Human placental phosphoglucomutase locus 3 studies in the Italian population. Japanese Journal of Human Genetics, 25: 325–328.
Davrinche C. &Rivat C., 1982.Polymorphism of the third component of human complement.Revue Française de Transfusion et de Immunohematologie, 25: 199–213.
Dobosz T. &Koziol P., 1980.Subtypes of the phosphoglucomutase-1 (PGM 1) locus detectable in Polish populations by Isoelectric focusing on cellogel. Human Genetics, 56: 119–121.
Driesel A. J., Scheil H. G., Pfeiffer I. M. &Röhrborn G., 1981.Gene frequencies of Transferrin (Tf C)subtypes in Western Germany (Düsseldorf Region). Zeitschrift für Rechtsmedizin, 86: 133–135.
Dykes D. &Polesky H., 1981.Transferrin (Tf) subtyping on agarose: a new technique for isoelectric focusing. Human Genetics, 59: 365–366.
Dykes D. D., Crawford M. H. &Polesky H. F., 1983.Population distribution in North and Central America of PGM 1 and Gc subtypes as determined by isoelectric focusing (IEF). American Journal of Physical Anthropology, 62: 137–145.
Hoste B., 1979.Group-specific component (Gc) and Transferrin (Tf) subtypes ascertained by isoelectric focusing. Human Genetics, 50: 75–79.
Kamboh M. I. &Kirk R. L., 1983.Distribution of Transferrin (Tf) subtypes in Asian, Pacific and Australian Aboriginal populations: evidence for the existence of a new subtype Tf C6. Human Heredity, 33: 237–243.
Kueppers F. &Harpel B. M., 1980.Transferrin C subtypes in US Blacks and Whites. Human Heredity, 30: 376–382.
Kühnl P., Schmidtmann U. &Spielmann W., 1977.Evidence for two additional common alleles at the PGM 1 locus (Phosphoglucomutase — E. C. 2.7.5.1.). Human Genetics, 35: 219–223.
Kühnl P. &Spielmann W., 1978a.Investigations on the PGM a1 polymorphism (Phosphoglucomutase — EC 2.7.5.1.) by isoelectric focusing. Human Genetics, 43: 57–67.
Kühnl P. &Spielmann W., 1978b.Transferrin: Evidence for two common subtypes of the Tf C allele. Human Genetics, 43: 91–95.
Kühnl P. &Spielmann W., 1979.A third common allele in the transferrin system, Tf C3,detected by isoelectric focusing. Human Genetics, 50: 193–198.
Lefranc M. P., Chibani J., Helal A. N., Boukef K., Seger J. &Lefranc G., 1981.Human Transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia. Human Genetics, 59: 60–63.
Lucarelli P., Agostino R., Palmarino R. &Bottini E., 1971.Adenosine deaminase polymorphism in Sardinia. Humangenetik, 14: 1–5.
Lucarelli P., Scacchi R., Corbo R. M., Laconi G., Nasi A. &Palmarino R., 1979.Placental alkaline phosphatase: population studies in Sardinia and data on the anthropological value of this genetic marker. American Journal of Physical Anthropology, 50: 605–610.
Malavasi F., Olivetti E., Milanese C. &Carbonara A. O., 1981.Properdin factor B polymorphism in continental Italy and Sardinia. Human Genetics, 58: 209–212.
Maneyama Y., Horai S. &Omoto K., 1978.The distribution of phosphoglucomutase-1 (PGM 1) subtypes in Japanese. Japanese Journal of Human Genetics, 23: 383–387.
Martin W., 1979.Erfahrungen mit der isoelektrischen fokussierung zur darstellung von isoenzympolymorphismem-PGM-system. Arztliche Laboratorium, 25: 44–46.
Montaldo S., 1964.Contributo allo studio della distribuzione delle proprietà gruppo-sanguigne in Sardegna. Rass. Med. Sard,a 67: 403–409. Quoted by Mourant, A. E., Kopeć A. C. and Domaniewska-Sobczak, K. 1976. The distribution of the human blood groups and other polymorphisms. London, Oxford University Press.
Nishigaki I., Benkmann H. G. &Goedde H. W., 1982a.Isoelectric focusing studies of human red cell PGM 1 in Japanese, with special reference to the characterization of PGM1. Human Heredity, 32: 301–307.
Nishigaki I., Itoh T. &Hasegawa I., 1982b.A rare phenotype of Phosphoglucomutase-2 first detected in Mongoloids. Human Genetics, 62: 246–249.
Palmarino R., Agostino R., Gloria F., Lucarelli P., Businco L., Antognoni G., Maggioni G., Workman P. L. &Bottini E., 1975.Red cell acid phosphatase: another polymorphism correlated with malaria? American Journal of Physical Anthropology, 43: 177–186.
Papiha S. S., Roberts D. F., White I., Chahal S. M. S., &Asefi J. A. 1982.Population genetics of the group specific component (Gc) and phsphoglucomutase (PGM 1) studied by isoelectric focusing. American Journal of Physical Anthropology, 59: 1–7.
Pascali V. L., Ranalletta D. &Auconi P., 1982.Improved typing of human serum transferrin by isoelectric focusing on ultrathin layer polyacrylamide slab gels. Human Genetics, 61: 39–41.
Petrucci R. &Santolamazza P., 1982. α1-antitrypsin subtypes in Sardinia. Journal of Human Evolution, 11: 517–519.
Piazza A., Belvedere M. C., Bernoco D., Conighi C., Contu L., Mayr W., Richiardi P., Scudeller G. &Ceppellini R., 1973.HL-A variation in four Sardinian villages under differential selective pressure by malaria. In Histocompatibility Testing, 1972. Munksgaard, Copenhagen.
Saha N., 1983.Red cell phosphoglucomutase-1 (PGM 1) subtypes in three ethnic groups of Singapore. XV International Congress of Genetics. New Delhi-India. p. 776.
Santachiara-Benerecetti A. S., Ranzani G. N., Antonini G. &Beretta M., 1982.Subtyping of phosphoglucomutase locus 1 (PGM 1) polymorphism in some populations of Rwanda: description of variant phenotypes, «haplotype» frequencies, and linkage disequilibrium data. American Journal of Human Genetics, 34: 337–348.
Scacchi R., Corbo R. M., Spennati G. F. &Palmarino R., 1979.C' 3 polymorphism in Italy. Human Genetics, 47: 335–337.
Scacchi R., Pascone R., Palmarino R. &Lucarelli P., 1981.C3 polymorphism and the antibody titres in pregnancy. Use of a non-barbital buffer for C3 typing. Human Heredity, 31: 183–186.
Scherz R., Pflugshaupt P. &Bütler R., 1981.Isoelectric focusing of human red cell phosphoglucomutase (PGM 1). Phenotype distribution in the Swiss population — Rare Phenotypes. Human Heredity, 31: 187–190.
Siniscalco M., Bernini L., Filippi G., Latte B., Meera Khan P., Piomelli S. &Rattazzi M., 1966.Population genetics of haemoglobin variants, thalassemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis. Bulletin of the World Health Organization, 34: 379–393.
Smithies O., 1957.Variations in human β-globulins. Nature (Lond), 180: 1482.
Spencer N., Hopkinson D. A. &Harris H., 1964.Phosphoglucomutase polymorphism in man. Nature, (Lond.), 204: 742–745.
Stibler H., Beckman G. &Sikström C., 1979.Subtypes of Transferrin C 1. Human Heredity, 29: 320–324.
Svensson M. &Wetterling G., 1982.Identification of PGM 1 (Phosphoglucomutase E.C. 2.7.5.1.) by isoelectric focusing in a Swedish population. Human Heredity, 32: 357–361.
Tan S. G., Gan Y. Y. &Asuan K., 1982.Transferrin C subtyping in Malaysians and in Indonesians from North Sumatra. Human Genetics 60: 369–370.
Teisberg P., 1970.High voltage agarose gel electrophoresis in the study of C3 polymorphism. Vox Sanguinis, 19: 47–56.
Thymann M., 1978.Identification of a new serum protein polymorphism as transferrin. Human Genetics, 43: 225–229.
Tipler T. D., Dunn D. S. &Jenkins T., 1982.Phosphoglucomutase first locus polymorphism as revealed by isoelectric focusing in Southern Africa. Human Heredity, 32: 80–93.
Tsiakalos G., Walter H., Hilling M. &Schaarschmidt L., 1981.Investigations on the distribution of genetic polymorphisms in Greece. 2. Serum protein polymorphisms. Anthropologischen Anzeiger, 39: 1–9.
Walter H., 1975.Transferrin system. In: P. E. Becker (ed.): Humangenetik. Ein kurzes handbuch in fünf bänden, vol. 1/3, Stuttgart, Thieme, pp. 136–166.
Walter H., Stach M., Singh I. P. &Bhasin M. K., 1983.Transferrin subtypes in four Northwest Indian tribal populations and some remarks on the anthropological value of this new polymorphism. American Journal of Physical Anthropology, 61: 423–428.
Weidinger S., Cleve H., Schwarzfischer F., Postel W., Weser O. &Görg A., 1984.Transferrin subtypes and variants in Germany: further evidence for a Tf null allele. Human Genetics, 66: 356–360.
Welch S. G., Swindlehurst C. A., McGregor I. A. &Williams K., 1978.Isoelectric focusing of human red cell phosphoglucomutase. The distribution of variant phenotypes in a village population from the Gambia, West Africa. Human Genetics, 43: 307–313.
Welch S. G., Wood N. J. &Dodd B. E., 1979.Red cell PGM 1 (phosphoglucomutase) phenotyping by isoelectric focusing and starch gel electrophoresis in cases of disrupted paternity in the United Kingdom. An evalutation of the results obtained in 95 cases. Forensic Science International, 13: 87–92.
Workman P. L., Lucarelli P., Agostino R., Scarabino R., Scarabino R., Scacchi R., Carapella E., Palmarino R. &Bottini E., 1975.Genetic differentiation among Sardinian villages. American Journal of Physical Anthropology, 43: 165–176.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Scacchi, R., Palmarino, R., Lucarelli, P. et al. PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers. Int. J. Anthropol. 2, 47–60 (1987). https://doi.org/10.1007/BF02442072
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02442072