Genetic Loadby@isaacasimov

Genetic Load

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Some gene mutations produce characteristics so undesirable that it is difficult to imagine any reasonable change in environmental conditions that would make them beneficial. There are mutations that lead to the nondevelopment of hands and feet, to the production of blood that will not clot, to serious malformations of essential organs, and so on. Such mutations are unqualifiedly bad. The badness may be so severe that a fertilized ovum may be incapable of development; or, if it develops, the fetus miscarries or the child is stillborn; or, if the child is born alive, it dies before it matures so that it can never have children of its own. Any mutation that brings about death before the gene producing it can be passed on to another generation is a lethal mutation.
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The Genetic Effects of Radiation by Isaac Asimov is part of HackerNoon’s Book Blog Post Series. The Table of Links for this book can be found here. Mutations - Genetic Load

Genetic Load

Some gene mutations produce characteristics so undesirable that it is difficult to imagine any reasonable change in environmental conditions that would make them beneficial. There are mutations that lead to the nondevelopment of hands and feet, to the production of blood that will not clot, to serious malformations of essential organs, and so on. Such mutations are unqualifiedly bad.

The badness may be so severe that a fertilized ovum may be incapable of development; or, if it develops, the fetus miscarries or the child is stillborn; or, if the child is born alive, it dies before it matures so that it can never have children of its own. Any mutation that brings about death before the gene producing it can be passed on to another generation is a lethal mutation.

A gene governing a lethal characteristic may be dominant. It will then kill even though the corresponding gene on the other chromosome of the pair is normal. Under such conditions, the lethal gene is removed in the same generation in which it is formed.

The lethal gene may, on the other hand, be recessive. Its effect is then not evident if the gene it is paired with is normal. The normal gene carries on for both.

When this is the case, the lethal gene will remain in existence and will, every once in a while, make itself evident. If two people, each serving as a carrier for such a gene, have children, a sperm cell carrying a lethal may fertilize an egg cell carrying the same type of lethal, with sad results.

Every species, including man, includes individuals who carry undesirable genes. These undesirable genes may be passed along for generations, even if dominant, before natural selection culls them out. The more seriously undesirable they are, the more quickly they are removed, but even outright lethal genes will be included among the chromosomes from generation to generation provided they are recessive. These deleterious genes make up the genetic load.

The only way to avoid a genetic load is to have no mutations and therefore no gene pool. The gene pool is necessary for the flexibility that will allow a species to survive and evolve over the eons and the genetic load is the price that must be paid for that. Generally, the capacity for a species to reproduce itself is sufficiently high to make up, quite easily, the numbers lost through the combination of deleterious genes.

The size of a genetic load depends on two factors: The rate at which a deleterious gene is produced through mutation, and the rate at which it is removed by natural selection. When the rate of removal equals the rate of production, a condition of genetic equilibrium is reached and the level of occurrence of that gene then remains stable over the generations.

Even though deleterious genes are removed relatively rapidly, if dominant, and lethal genes are removed in the same generation in which they are formed, a new crop of deleterious genes will appear by mutation with every succeeding generation. The equilibrium level for such dominant deleterious genes is relatively low, however.

Deleterious genes that are recessive are removed much more slowly. Those persons with two such genes, who alone show the bad effects, are like the visible portion of an iceberg and represent only a small part of the whole. The heterozygotes, or carriers, who possess a single gene of this sort, and who live out normal lives, keep that gene in being. If people in a particular population marry randomly and if one out of a million is born homozygous for a certain deleterious recessive gene (and dies of it), one out of five hundred is heterozygous for that same gene, shows no ill effects, and is capable of passing it on.

It may be that the heterozygote is not quite normal but does show some ill effects—not enough to incommode him seriously, perhaps, but enough to lower his chances slightly for mating and bearing children. In that case, the equilibrium level for that gene will be lower than it would otherwise be.

It may also be that the heterozygote experiences an actual advantage over the normal individual under some conditions. There is a recessive gene, for instance, that produces a serious disease called sickle-cell anemia. People possessing two such genes usually die young. A heterozygote possessing only one of these genes is not seriously affected and has red blood cells that are, apparently, less appetizing to malaria parasites. The heterozygote therefore experiences a positive advantage if he lives in a region where the incidence of certain kinds of malaria is high. The equilibrium level of the sickle-cell anemia gene can, in other words, be higher in malarial regions than elsewhere.

Here is one subject area in which additional research is urgently needed. It may be that the usefulness of a single deleterious gene is greater than we may suspect in many cases, and that there are greater advantages to heterozygousness than we know. This may be the basis of what is sometimes called “hybrid vigor”. In a world in which human beings are more mobile than they have ever been in history and in which intercultural marriages are increasingly common, information on this point is particularly important.

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This book is part of the public domain. Asimov, Isaac. (October 13, 2017). THE GENETIC EFFECTS OF RADIATION. Urbana, Illinois: Project Gutenberg. Retrieved June 2022, from https://www.gutenberg.org/files/55738/55738-h/55738-h.htm#c9

This eBook is for the use of anyone anywhere at no cost and with almost no restrictions whatsoever.  You may copy it, give it away or re-use it under the terms of the Project Gutenberg License included with this eBook or online at www.gutenberg.org, located at https://www.gutenberg.org/policy/license.html.

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