Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome |
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| Authors: | F Vogel J Krüger K Brøndum Nielsen J P Fryns D Schindler A Schinzel A Schmidt E Schwinger |
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| Institution: | (1) Institut für Anthropologie und Humangenetik, University of Heidelberg, Im Neuenheimer Feld 328, D-6900 Heidelberg, Germany;(2) The John F. Kennedy Institute, Glostrup, Denmark;(3) Division of Human Genetics, University of Leuven, Leuven, Belgium;(4) Institut für Humangenetik, University of Würzburg, D-8700 Würzburg, Germany;(5) Institut für medizinische Genetik, University of Zürich, Zürich, Switzerland;(6) Institut für Humangenetik, Universitätsklinikum Essen, D-4300 Essen, Germany;(7) Institut für Humangenetik, Medizinische Hochschule Lübeck, D-2300 Lübeck, Germany |
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| Abstract: | Summary In order to test the hypothesis that the high prevalence of the mar(X) syndrome is caused by a high mutation rate in male germ cells only, the fraction of new mutants among mothers of probands in 112 informative families has been examined by segregation analysis among their brothers and sisters. The estimated fraction of new mutants among these mothers is much lower than expected if a stable equilibrium existed between an unusually high mutation rate and a selective disadvantage of mentally retarded, male and female mar(X) carriers. Hence, the above-mentioned hypothesis could not be confirmed. |
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