AN ANALYSIS OF PARENTAL AGE EFFECTS ON THE OCCURRENCE OF NEW MUTATIONS FOR SOME MENDELIAN DISEASE GENES

The effect of parental age on mutation rates of achondroplasia, neurofibromatosis, heriditary gastrointestinal adenomatosis and Duchenne muscular dystrophy loci was studied. A significant paternal age effect on the occurrence of new mutations for achondroplasia and neurofibromatosis was shown. The parental component of this paternal age effect was the major factor in the occurrence of such mutations. The risk of the occurrence of new cases of achondroplasia and neurofibromatosis, as compared with their overall frequency, due to new mutations, are increased by a factor of 2 and 3, respectively, up to the parental age of 50. The possibility of application of the data obtained in genetic counselling is discussed.