Abstract
biguous medical diagnosis. Males generate sperm mutations (deletions and duplications) associated with specific genetically determined syndromes throughout their lives. Environmental risk factors are associated with the production of sperm mutations and increasing levels of exposure; increasing paternal age also increases the frequency of sperm mutations. Have we reached to the point where the general population’s rapidly expanding mutation rate has reached the point of no return? Stephan J. Gould’s theory of punctuated equilibrium states that the mutation rates in natural history are stable for millennia, punctuated by periods of rapid evolutionary change. Thus, we may well be entering a period of punctuated equilibrium.
Highlights
The advanced technological achievement of fluorescent in situ hybridisation (FISH) has allowed evolutionary biology to directly examine the locations and frequency of specific sperm mutations in male donors with a minimum of 10,000 sperms per donor
Environmental risk factors are associated with the production of sperm mutations and increasing levels of exposure; increasing paternal age increases the frequency of sperm mutations
The FISH methodology requires examining a minimum of 10,000 individual sperm per donor and as such does not permit the technology to be used in examining the frequency of de novo egg mutations, these mutations are likely to be involved in the genetic syndromes associated with high autism spectrum disorder (ASD) risk
Summary
The advanced technological achievement of fluorescent in situ hybridisation (FISH) has allowed evolutionary biology to directly examine the locations and frequency of specific sperm mutations in male donors with a minimum of 10,000 sperms per donor. The FISH methodology requires examining a minimum of 10,000 individual sperm per donor and as such does not permit the technology to be used in examining the frequency of de novo egg mutations, these mutations are likely to be involved in the genetic syndromes associated with high ASD risk. Both increased paternal and maternal ages are associated with increased ASD risk. The aim of this review is to discuss the origins of de novo gene mutations in the genetic syndromes with high ASD risk
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