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Reproductive compensation and human genetic disease.
1Liverpool School of Tropical Medicine, Pembroke Place, Liverpool L3 5QA, UK. hastings@liverpool.ac.uk
Genetical Research
|August 7, 2001
Summary
Reproductive technologies like family planning and prenatal diagnosis may increase harmful recessive mutation frequencies. This rapid rise, up to 33%, impacts population genetics and disease incidence over generations.
Area of Science:
- Population Genetics
- Human Genetics
- Reproductive Technologies
Background:
- Sex-linked recessive lethal mutations cause severe human genetic diseases.
- Existing population genetic theory needs to incorporate reproductive compensation effects.
Purpose of the Study:
- To investigate the impact of reproductive compensation on population genetics of recessive lethal mutations.
- To present equations describing these effects and complement current theory.
Main Methods:
- Developed simple mathematical equations to model the effects of reproductive compensation.
- Analyzed the influence of modern reproductive technologies on mutation frequencies.
Main Results:
- Reproductive technologies (family planning, prenatal diagnosis, embryo sexing) can rapidly increase mutation frequencies by over 33% in 2-5 generations.
- The increase is larger when mutations originate paternally.
- Prenatal diagnosis/embryo sexing decrease disease incidence while increasing mutation frequency.
Conclusions:
- Effective family planning may increase both mutation frequency and disease incidence.
- Modern reproductive technologies have significant, rapid, and complex effects on the population genetics of recessive lethal mutations.