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DNA-minisatellite mutations: Recent investigations concerning distribution and impact on parentage testing

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Summary

At least 815 meioses were studied in theHinfI polymorphisms of DNA minisatellite loci D1S7, D2S44, D7S21, D7S22, and D12S11 in order to collect data on respective mutation rates. At locus D7S21 (probe MS31) a striking difference between the paternal and maternal mutation rate was observed (1.5% versus 0.2%). This study also describes, how to deal biostatistically with paternal mutations in parentage testing. Possible implications of mutations are illustrated by the description of 2 cases. Case 1 reports an “exclusion” of mother and father with probe MS1. Case 2 describes 2 paternal “exclusions” with probes MS31 and G3. The statistical likelihood for a paternal “exclusion” with 2 of the 5 probes is 0.13%. By omitting probe MS1, this frequency can be reduced to 0.02%. Nevertheless, the second case clearly shows, that informative blood group markers cannot be replaced by DNA polymorphisms.

Zusammenfassung

815-2004 Meiosen wurden in den HinfI-Polymorphismen der DNA-Loci D1S7, D2S44, D7S22 und D12S11 untersucht, um Daten über Mutationsfrequenzen zu gewinnen. Getrennt nach paternalen und maternalen Meiosen wurden die in Tabelle 1 dargestellten Mutationsraten beobachtet. Am DNA-Locus D7S21 (Sonde MS31) wurde ein signifikanter Unterschied zwischen paterneller und materneller Mutationsrate festgestellt (1,5% im Vergleich zu 0,2%). Die Arbeit beschreibt weiterhin, wie biostatistisch mit (paternellen) Mutationen im Vaterschaftsgutachten umgegangen werden muß. Die Bedeutung von Mutationen illustrieren 2 Falldarstellungen: Der 1. Fall beschreibt einen “Eltern-Kind-Ausschluß” mit Sonde MS1. Der 2. Fall berichtet von 2 paternellen “Ausschlußkonstellationen” mit den Sonden MS31 und G3.

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Authors and Affiliations

  1. Institut für Blutgruppenforschung, Hohenzollernring 57, W-5000, Köln, Germany

    J. Henkel

  2. Institut für Medizinische Statistik, Dokumentation und Datenverarbeitung der Universität Bonn, Sigmund-Freud-Strasse 25, W-5300, Bonn, Germany

    R. Fimmers & M. P. Baur

  3. Institut für Blutgruppenforschung, Abteilung Forensische Blutgruppenkunde und Molekulargenetik, Otto-Hahn-Strasse 39, W-4000, Düsseldorf 13, Germany

    L. Henke

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Henkel, J., Fimmers, R., Baur, M.P. et al. DNA-minisatellite mutations: Recent investigations concerning distribution and impact on parentage testing. Int J Leg Med 105, 217–222 (1993). https://doi.org/10.1007/BF01642797

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