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  • 1
    Electronic Resource
    Electronic Resource
    Transferrin variants in Tuscany (Italy). Evidence for two “new” Tf alleles (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 284-286 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Polyacrylamide gel isoelectric focusing (PAGIF) with carrier ampholytes was used for the determination of Tf phenotypes in a sample of 965 unrelated healthy blood donors from Tuscany (Italy). Thirteen rare variants in a heterozygote state were found (four Tf D, seven Tf B, and two rare Tf C subtypes). Among them two apparently new variants, tentatively called Tf C15 and Tf B4, were identified. The rare Tf B0 mutant was also observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293043
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    EsD*5 gene frequency in Tuscany (Italy) (1986)
    Springer
    International journal of legal medicine 97 (1986), S. 1-6 
    Details
    ISSN: 1437-1596
    Keywords: Red cell enzyme, esterase D, population genetics ; Paternity testing, esterase D ; Esterase D, Populationsgenetik ; Paternitätsbegutachtung, Esterase D
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: 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.
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200954
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Polymorphism of plasminogen in Tuscany (Italy) (1990)
    Springer
    International journal of legal medicine 103 (1990), S. 163-167 
    Details
    ISSN: 1437-1596
    Keywords: Plasminogen (PLG) ; genetic polymorphism ; Paternity testing ; plasminogen ; Plasminogen (PLG) ; genetischer Polymorphismus ; Vaterschaftsgutachten ; Plasminogen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Die Verteilung der Plasminogen-Phänotypen in der Bevölkerung der Toskana wird untersucht. Die Bestimmung erfolgt an Neuraminidasebehandelten Seren nach isoelektrischer Fokussierung im Agarose-Gel und anschließender Immunofixation. In einer zufälligen Bevölkerungsstichprobe von 383 unverwandten gesunden Blutspendern des Krankenhauses Pisa wurden die drei neueren-Phdnotypen PLG A, A-B and B gefunden sowie zwei seltene Varianten. Die berechneten Allelfrequenzen unserer Studie waren: PLG*A = 0,6749, PLG*B = 0,3225 and PLG* seltene Var. = 0,0026. Die theoretische Ausschließungschance im Vaterschaftsverfahren beträgt 17,42%.
    Notes: Summary The distribution of PLG phenotypes in the population of Tuscany (Central Italy) has been investigated by means of isoelectric focusing followed by immunofixation of desialyzed sera. In a random sample of 383 unrelated healthy blood donors registered at the Hospital of Pisa, three common phenotypes, PLG A, A-B, and B, and two rare variants were found. The allele frequencies calculated in our study were: PLG*A = 0.6749, PLG*B = 0.3225, and PLG*rare = 0.0026. The theoretical exclusion rate in cases of disputed paternity is 17.42%
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207338
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    Paper (German National Licenses)
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