Mutation in human population

In conclusion, we have shown that the neutral response approach can be extended to inhomogeneous, space-dependent reaction-diffusion systems. For labeled species (tracers) that have the same kinetic and transport properties as the unlabeled species, there is a linear response law even if the transport and kinetic equations of the process are nonlinear. The susceptibility function in the linear response law is given by the joint probability density of the transit time and of the displacement position vector. For illustration we considered the time and space spreading of neutral mutations in human populations and have shown that it can be viewed as a natural linear response experiment. We have shown that enhanced (hydrodynamic) transport due to population growth may exist and developed a method for evaluating the position of origin of a mutation from experimental data. 

A fundamental issue in genetic toxicology is that environmental chemicals may cause mutation in human germ cells and thereby pose a health risk for future generations. Because of this possibility, there is a major effort to detect chemicals that induce mutation in man. However, mutagenesis is not amenable to the collection of data on human populations, except for effects in somatic cells. 

Thorlacius, S., Bprresen, A., and Eyfjord, J. (1993) Somatic p53 mutations in human breast carcinomas in an Icelandic population a prognostic factor. Cancer Res. 53,1637-1641. 

Verougstraete V, Lison D and Hotz P (2002) A systematic review of cytogenetic studies conducted in human populations exposed to cadmium compounds. Mutat Res 511 15-43. 

Given a large population of individuals, a considerable number of sequence variants can be found for a protein. These variants are a consequence of mutations in a gene (base substitutions in DNA) that have arisen naturally within the population. Gene mutations lead to mutant forms of the protein in which the amino acid sequence is altered at one or more positions. Many of these mutant forms are neutral in that the functional properties of the protein are unaffected by the amino acid substitution. Others may be nonfunctional (if loss of function is not lethal to the individual), and still others may display a range of aberrations between these two extremes. The severity of the effects on function depends on the nature of the amino acid substitution and its role in the protein. These conclusions are exemplified by the more than 300 human... 

Genetic Effect of Radiation—Inheritable change, chiefly mutations, produced by the absorption of ionizing radiation by germ cells. Genetic effects have not been observed in any human population exposed at any dose level. 

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