Summary
The distribution of the human red cell esterase D (EsD) “extended” polymorphism in a population sample from Tuscany (Italy) was studied using agarose gel isoelectric focusing. The estimated gene frequencies were: EsD*1 0.864, EsD*2 0.115, EsD*5 0.021. The EsD*5 allele frequency is very similar to those reported for other European populations. The “extension” of the EsD polymorphism may prove to be useful in paternity testing.
Zusammenfassung
Die Verteilung des „ausgedehnten“ Polymorphismus der Esterase-D (EsD) in menschlichen roten Blutkörperchen in der Bevölkerung der Toskana (Italien) wurde anhand der isoelektrischen Fokussierung in Agarosegel studiert. Die von uns gefundene Frequenz der Gene war: EsD*1 0,864, EsD*2 0,115, EsD*5 0,021. Die Allelenfrequenz der EsD*5 kommt denen in anderen europäischen Bevölkerungen sehr nahe. Die Anwendung des „ausgedehnten“ Polymorphismus kann sich beim Vaterschaftsnachweis als nützlich erweisen.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bär W, Häni M, Biedermann V (1984) Esterase D: simultaneous electrophoretic determination of the three common allozymes (ESD 1,2,5). Electrophoresis 5:280–281
Bargagna M, Benciolini P, Cortivo P, Domenici R (1979) Frequency in the Italian population of the most commonly used genetic markers in paternity testing. Ref 8. Int Tag Ges Forens Blutgruppenkunde, London, 23–27 September 1979, pp 329–338
Bargagna M, Domenici R, Morali A (1975) Red cell esterase-D polymorphism in the population of Tuscany. Hum Genet 29:251–253
Bender K, Frank R (1974) Esterase D Polymorphismus: Darstellung in der Hochspannungs-elektrophorese und Mitteilung von Allelhäufigkeiten. Hum Genet 23:315–318
Berg K, Schwarzfischer F, Wischerath H (1976) Esterase D polymorphism: description of the “new” alleles EsD*4. Hum Genet 32:81–83
Bonavita V, Crinò C (1982) Polimorfismo isoenzimatico eritrocitario EsD e GLO nella popolazione della provincia di Messina. Riv Ital Med Leg 4:418–420
Budowle B (1984) Typing of esterase D by isoelectric focusing. Electrophoresis 5:314–316
Cingolani M, Piermattei A, Tagliabracci A (1983) Il polimorfismo dell' esterasi D eritrocitaria nella popolazione delle Marche. Quad Med Leg 5:351–356
Corbo RM, Spennati GF, Palmarino R, Della Penna MR, Lucarelli P (1981) A survey of serum protein and enzymes polymorphisms in the district of L'Aquila (Italy). Hum Hered 31:167–171
DeMercurio D, DeGiovanni M (1980) Frequenza dell' esterasi D eritrocitaria nella popolazione romana. Riv Ital Med Leg 2:330–335
Dissing J, Heriksen B (1984) Human red cell esterase D polymorphism in Denmark, its use in paternity cases and the description of a new phenotype. Hum Hered 34:148–155
Divall GB (1984) The esterase D polymorphism as revealed by isoelectric focusing in ultrathin polyacrylamide gels. Forens Sci Int 26:255–267
Dykes DD, Polesky HF, Miller S (1982) Frequency of the EsD*5 allele in three ethnic groups in Minnesota. Hum Genet 62:162–163
Giaccone P, Procaccianti S, Scalici E, Sammarco M (1982) La distribution des groups sanguins dans la population de Palermo et sa province (AB0, Rhesus, MN/NMSs, Kell, Duffy, Lutheran, Kidd, Gc, Gm, Km, AcP, PGM1, AK, ADA, EsD, GLO-I, 6-PGD). Proc XIIth Congr Int Acad Forens Social Med, Vienna, 17–22 May 1982, pp 543–548
Gradl G, Weidinger S, Cleve H, Schwarzfischer F (1985) Genetic study of red cell esterase D polymorphism by isoelectric focusing. Presented as poster to 11. Int Tag Ges Forens Blutgruppenkunde, Copenhagen, 6–10 August 1985
Günther A, Basler M, Henke J, Scheil HG (1982) Zur Häufigkeit des Alleles EsD*5 (Esterase D, EC 3.1.1.1) in einer westdeutschen Population (Düsseldorfer Raum). Ärztl Lab 28:355–356
Henke J, Basler M (1984) Evidence for a “new” allele at esterase D (EC 3.1.1.1) locus. Z Rechtsmed 92:35–37
Hopkinson DA, Mestriner MA, Cortner J, Harris H (1973) Esterase D: a new human polymorphism. Ann Hum Genet 37:119–137
Koziol P, Stepien J (1980) Atypical segregation of esterase D: evidence of a rare “silent” allele EsD*0. Hum Genet 53:223–225
Kühnl P, Spielmann W (1981) Neuere Entwicklung der Elektrofokussierungstechnik — Alpha-Fucosidase (FUCA)-System, C6-System, Amylase-1-System. Ärztl Lab 27:255–260
Marks MP, Jenkins T, Nurse GT (1977) The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsD*0 allele. Hum Genet 37:49–54
Martin W (1979a) Neue Elektrophoresemethoden zur Darstellung von Serum- und enzympolymorphismen: technische Verbesserungen, Hinweis auf weiteres EsD-Allel. Ärztl Lab 25:65–67
Martin W (1979b) Red cell isoenzyme polymorphisms. Ref 8. Int Tag Ges Forens Blutgruppenkunde, London, 23–27 September 1979, pp 65–87
Martin W (1981) Red cell enzyme groups in paternity testing. Ref 9. Int Tag Forens Blutgruppenkunde, Bern 29 September–3 October 1981, pp 221–239
Nishigaki I, Itoh T, Ogasawara N (1983) Quantitative variations in polymorphic types of human red cell esterase D. Ann Hum Genet 47:187–192
Nishigaki I, Itoh T (1984) Isoelectric focusing studies of human red cell esterase D: evidence for polymorphic occurrence of a new allele EsD*7 in Japanese. Hum Genet 66:92–95
Olaisen B, Siverts A, Jonassen R, Mevag B, Gedde-Dahl T (1981) The EsD polymorphism: further studies of the ESD2 and ESD5 allele products. Hum Genet 57:351–353
Patschneider H, Dirnhofer R (1979) Scheinbar entgegengesetzte Homozygotie der Gc- und EsD-Merkmale in drei Generationen. Z Rechtsmed 82:243–249
Piazza A, Olivetti E, Carbonara AO, Bargagna M, Pecori F, Benciolini P, Cortivo P, Breda F, Domenici R, Jayakar S (1982) The distribution of some genetic polymorphisms in Italy. Ric Clin Lab 2 [Suppl] 1–108
Radam G, Strauch H, Martin W (1980) Der Phänotyp „Rügen“ im Polymorphismus der Esterase D: Hinweis auf die Existenz eines neuen Allels (EsD*6). Blut 40:337–341
Scherz R, Rohner R, Pflugshaupt R, Bütler R (1983) Isoelectrofocusing of red cell esterase D (EsD, EC 3.1.1.1): phenotype and gene frequencies in the Swiss population. Ref 11. Int Tag Ges Forens Blutgruppenkunde, München, 11–15 October 1983, pp 507–510
Siege M, Schwehn B (1983) Polymorphismus des Esterase D-Systems. Nachweis eines neuen Allels ESD*7. Ärztl Lab 29:268–270
Sparkes RS, Targum S, Gershon E, Sensabaugh GF, Sparkes MC, Crist M (1979) Evidence for a null allele at esterase D (EC 3.1.1.1) locus. Hum Genet 46:319–323
Vecchiotti C, D'Onofrio M (1980) Frequenza dell' Esterasi D eritrocitaria nella popolazione abruzzese. Atti XXVII Congr Naz Soc Ital Med Leg Ass, Chianciano Terme, 15–19 October 1980, pp 673–676
Author information
Authors and Affiliations
Additional information
Supported by a grant from the Ministero della Pubblica Istruzione
Rights and permissions
About this article
Cite this article
Giari, A., Domenici, R. & Bargagna, M. EsD*5 gene frequency in Tuscany (Italy). Z Rechtsmed 97, 1–6 (1986). https://doi.org/10.1007/BF00200954
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00200954