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97 Z. Rechtsmedizin 1 (1986)

handle is hein.journals/injlegame97 and id is 1 raw text is: Zeitschrift for Z Rechtsmed (1986) 97:1-6 Rechtsmedizin © Springer-Verlag 1986 Originalarbeiten / Original Works EsD*5 Gene Frequency in Tuscany (Italy)* A. Giari, R. Domenici, and M. Bargagna Istituto di Medicina Legale e delle Assicurazioni, Scuola Medica, via Roma 55, I-56100 Pisa, Italy Summary. The distribution of the human red cell esterase D (EsD) ex- tended polymorphism in a population sample from Tuscany (Italy) was studied using agarose gel isoelectric focusing. The estimated gene frequen- cies were: EsD*1 0.864, EsD*2 0.115, EsD*5 0.021. The EsD*5 allele fre- quency is very similar to those reported for other European populations. The extension of the EsD polymorphism may prove to be useful in pater- nity testing. Key words: Red cell enzyme, esterase D, population genetics - Paternity testing, esterase D Zusammenfassung. Die Verteilung des ,,ausgedehnten Polymorphismus der Esterase-D (EsD) in menschlichen roten Blutkorperchen in der Bevol- kerung der Toskana (Italien) wurde anhand der isoelektrischen Fokussie- rung 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 europaischen Bevolkerungen sehr nahe. Die Anwendung des ,,ausgedehnten Polymorphismus kann sich beim Va- terschaftsnachweis als nutzlich erweisen. Schlisselworter: Esterase D, Populationsgenetik - Paternitatsbegutachtung, Esterase D Introduction The red cell enzyme Esterase D (EsD: E.C.3.1.1.1) polymorphism was first dis- covered by Hopkinson et al. (1973). Family and population studies showed that this polymorphism is determined by two common alleles, EsD*1 and EsD*2, at an autosomal locus. Additional rare alleles have subsequently been reported: EsD*3 (Bender and Frank 1974), EsD*4 (Berg et al. 1976), EsD*6 (Radam et al. 1980), EsD*7 (Siege and Schwehn 1983), EsD*Cph (Dissing and Heriksen 1984), EsD*D * Supported by a grant from the Ministero della Pubblica Istruzione Offprint requests to: M. Bargagna (address see above)

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