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Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome


Vogel, F; Krüger, J; Nielsen, K Brondum; Fryns, J P; Schindler, D; Schinzel, Albert; Schmidt, A; Schwinger, E (1985). Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome. Human Genetics, 71(1):1-6.

Abstract

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.

Abstract

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Internal Medicine, Germ Cell, Metabolic Disease, Mutation Rate, Stable Equilibrium
Language:English
Date:September 1985
Deposited On:25 Oct 2023 06:59
Last Modified:30 Mar 2024 04:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00295657
PubMed ID:3861564
Other Identification Number:Corpus ID: 7782125