Spontaneous mutation and parental age in humans.

摘要: A statistical analysis of parental age and the incidence new mutation has been performed. Some data on Apert, Crouzon, Pfeiffer syndromes is presented combined with all available from literature mutation. Significant heterogeneity among for rate increase in was found. parsimonious conclusion that mutations fall into two groups, one a high other low age. For high-rate-of-increase group, linear model relating to rejected, while an exponential not. In addition, this increased paternal cannot account observed maternal age--that is, also contributes mutations. low-rate-of-increase alone can ages; also, either or acceptable. there no evidence mixture age-independent cases age-dependent any examined. The curves reflecting syndromes, Apert neurofibromatosis, have anomalous shape. both curve increases up 37 drops at 42 before increasing again 47. usual explanation effect mechanism "copy-error" mitotic division male sperone specifies probability time spent by spermatozoon ovum haploid state, period may parent. firm answer question awaits identification molecular defect underlying some these syndromes; we will then be position determine which parent occurred what it did so.