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Reproductive compensation and human genetic disease

Hastings, Ian ORCID: (2001) 'Reproductive compensation and human genetic disease'. Genetical Research, Vol 77, Issue 3, pp. 277-283.

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The effects of reproductive compensation on the population genetics of sex-linked recessive lethal mutations are investigated. Simple equations are presented which describe these effects, and so complement existing population genetic theory. More importantly, this type of mutation is responsible for several severe human genetic diseases such as Duchenne muscular dystrophy. It is argued that the applications of three modern reproductive technologies - effective family planning, in utero diagnosis with termination, and embryo sexing - will lead to reproductive compensation. The adoption of any of these technologies may rapidly elevate the frequencies of those mutations which are lethal in childhood. This increase is large, in the order of 33 % upwards, and occurs rapidly over two to five generations. It also depends on the source of mutations, the effect being larger if most mutations are paternal. In utero diagnosis and/or embryo sexing increase the frequency of the mutation, but simultaneously decrease disease incidence by preventing the birth of affected offspring. In contrast, effective family planning may rapidly increase both mutation frequency and disease incidence.

Item Type: Article
Subjects: QU Biochemistry > Genetics > QU 450 General Works
QU Biochemistry > Genetics > QU 475 Genetic processes
QU Biochemistry > Proteins. Amino Acids. Peptides > QU 58.5 DNA.
Faculty: Department: Pre 2002
Digital Object Identifer (DOI):
Depositing User: Martin Chapman
Date Deposited: 29 Jul 2013 14:30
Last Modified: 19 Sep 2019 11:29


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