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Evolutionary Computation
Published in Anand Nayyar, Dac-Nhuong Le, Nhu Gia Nguyen, Advances in Swarm Intelligence for Optimizing Problems in Computer Science, 2018
Anand Nayyar, Surbhi Garg, Deepak Gupta, Ashish Khanna
Molecular genetics provides a microscopic view of a natural evolution. It crosses the general visible phenotypic features, going deeper in the process. The key observation in genetics is the individual being a dual entity. The external feature is phenotypic properties, which are constructed at the level, i.e., internal construction. Genes here may be considered as the functional units of inheritance, encoding the phenotypic characters, i.e., the external factors visible, e.g., fur colour, trail length, etc. Genes may hold many properties from the possible alleles. An allele is one of the possible values a gene can have. Hence, an allele can be said to have a value that a variable can have mathematically. In a natural system, a single gene may affect many phenotypic traits, which is called pleiotropy. In turn, one phenotypic trait can be determined to be the result of a combination of many genes, termed ‘polygene.’ Hence, biologically the phenotypic variations are connected to the genotypic variations, which are actually an outcome of gene mutation, or the recombination of genes by sexual reproduction.
Genomics, Big Data, and Broad Consent
Published in Kirk A. Phillips, Dirk P. Yamamoto, LeeAnn Racz, Total Exposure Health, 2020
Celia B. Fisher, Deborah M. Layman
A reasonable consent decision for research involving genetic testing may require understanding that the rapid rate at which new genetic technologies develop and the fact that many genes are related to more than one trait (pleiotropy) means that investigators may discover genetic risk that is unanticipated or incidental to the original aims of the research (Cooper et al. 2006). Relatedly, the multifactorial and probabilistic nature of data acquired through collection of genetic information for prevention studies and the lack of clinical utility can confuse participants attempting to understand the personal relevance of research results, leading to unrealistic expectations regarding the possibility of direct benefits (Fisher 2017b, Henderson 2008). Fisher and McCarthy (2013) have provided a detailed list of key elements for informed consent that can guide development of concise summaries for prevention research involving genetic testing. Some of the key elements they identify include: (1) how and for how long genetic material will be stored; (2) if, when, and how materials will be destroyed; (3) confidentiality protections including de-identification and risks of identity linkage; (4) the nature of personal genetic information that will or will not be disclosed to participants and the rationale for disclosure decisions; (5) opportunities for and limitations on the right to withdraw data once it has been collected, stored or analyzed, and for pediatric research; (6) parental permission and child assent procedures, and plans at the time child participants become legal adults; and (7) the possibility that data may contradict assumed attribution of paternity or other biological bases of family relationships.
Posthumanism: Creation of ‘New Men’ Through Technological Innovation
Published in The New Bioethics, 2021
The effects of individual genes can be associated with more than one trait; pleiotropy occurs when a gene influences two or more apparently unrelated traits. A pleiotropic gene shows multiple phenotypic expressions and, consequently, a mutation can have simultaneous effects on several traits. An example again involving the problematic APOE4 variant, the single strongest risk variant for late-onset Alzheimer’s disease, is that it is also a risk factor for cardiovascular diseases. Despite its adverse effects the allele remains at 15% frequency in the population and shows a non-random global distribution. It has been hypothesized that a reason for this prevalence is that the allele protects against vitamin D deficiency; experimental and epidemiological evidence has been obtained that the APOE ϵ4 allele is indeed associated with higher serum vitamin D, suggesting that it is a modulator of the status of this vitamin (Huebbe et al. 2011).
Transhumanist Genetic Enhancement: Creation of a ‘New Man’ Through Technological Innovation
Published in The New Bioethics, 2021
A second major difficulty in determining correlations between genes and traits is that many genes are associated with more than one trait. Pleiotropy occurs when one gene influences two or more seemingly unrelated phenotypic traits (Paaby and Rockman 2013). It should not be confused with polygenic traits in which multiple genes contribute to a single phenotype; but commonly, polygenes are pleiotropic adding a further complication to establishing their contribution to the phenotype. For example, the amino acid tyrosine is needed for protein synthesis, and is a precursor for the neurotransmitters dopamine and norepinephrine, and for thyroid hormones. Mutations in any one of the genes that affect tyrosine synthesis or metabolism may affect the synthesis of various proteins and metabolites, neurotransmission, growth and development, etc.; such mutations can have an effect on almost every physiological process and on multiple body systems (Lobo 2008b).