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Sind die Mutationsraten für die X-chromosomal recessiven Hämophilieformen in Keimzellen von Frauen niedriger als in Keimzellen von Männern?

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Abstract

Using some population samples of sex-linked hemophilia (A+B), the problem was examined whether the over-all mutation rate is the same in both sexes, or whether it is higher in male than in female gonads. The analysis gave the following results:

  1. 1.

    In the series analysed sibships with only one patient are not more frequent, than has to be expected under the assumption that all mothers are heterozygous.

  2. 2.

    Among the mothers of sporadic bleeders (hemophilia A), AHF values show the same distribution as in genetically proven heterozygotes.

Both results are strongly in favor of a higher mutation rate in male than in female gonads. However, due to some inconsistencies in the material analysed this conclusion cannot be taken as absolutely proven.

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik der Universität Heidelberg, Heidelberg, Deutischland

    Friedrich Vogel

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  1. Friedrich Vogel
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Direktor: Prof. Dr. Med. Friedrich Vogel

Herrn Prof. Dr. Dr. h. c. H. Nachtsheim zum 75. Geburtstag am 13. 6. 1965 gewidmet.

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Vogel, F. Sind die Mutationsraten für die X-chromosomal recessiven Hämophilieformen in Keimzellen von Frauen niedriger als in Keimzellen von Männern?. Humangenetik 1, 253–263 (1965). https://doi.org/10.1007/BF00395656

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  • DOI: https://doi.org/10.1007/BF00395656

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