Human germinal mutations: Monitoring for environmental effects

Abstract

A main purpose of monitoring human germinal mutations is to detect environmental predisposing factors of public health concern. At least in principle, three general types may be investigated: specific locus mutations, structural chromosome rearrangements, and numerical chromosome abnormalities. Two different methodological approaches may be distinguished: (1) systematic and ad hoc studies of reproductive outcomes in a defined population of women; (2) opportunistic use of data already collected for other purposes. An unresolved ambiguity in the definition of specific locus and chromosomal germinal mutation rates in human populations is that such are defined as being rates of events “per gamete” but at present are only studied in the resulting organism which has survived to the time of recognition of the mutation.