Relative fertility and mutation rate in neurofibromatosis

Abstract

The epidemiology and genetics of neurofibromatosis were described in a previously published population study. The present paper supplements that investigation with an estimation of mutation rate and relative fertility, or selection disadvantage, of neurofibromatosis. The relative fertility was estimated to be 78 % and the mutation rate was found to be somewhere between 2.4 and 4.3 × 10‐5, The results verify that this common disease has one of the highest mutation frequencies known in man. Copyright © 1988, Wiley Blackwell. All rights reserved