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  • 1
    Electronic Resource
    Electronic Resource
    Isoelectric focusing of human red cell phosphoglucomutase (PGM1). Phenotype distribution in the population of Tuscany and two hereditary variants (1982)
    Springer
    Human genetics 〈Berlin〉 61 (1982), S. 242-245 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Phosphoglucomutase (PGM1) phenotypes were determined in a population sample of Tuscany, Italy, by isoelectric focusing. The frequencies observed for the four alleles are: PGM 1 1+ =0.6012, PGM 1 1- =0.1059, PGM 1 2+ =0.2495, PGM 1 2- =0.0434. Two variants were detected and it was possible to study the parentage of both of them. The pedigree of the propositus of the first variant shows that the variant occurs in combination with the common alleles PGM1 1+ and PGM1 2+ and that it has an autosomal dominant inheritance. The second variant has been shown to be a product of the PGM2 locus, although its PAGIF pattern is included between 2- and 1+ isoenzymes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296450
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    Paper (German National Licenses)
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  • 2
    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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  • 3
    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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  • 4
    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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