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The Genetic Effects of Radiation

Contents

THE MACHINERY OF INHERITANCE 1 Introduction 1 Cells and Chromosomes 2 Enzymes and Genes 5 Parents and Offspring 8 MUTATIONS 10 Sudden Change 10 Spontaneous Mutations 13 Genetic Load 16 Mutation Rates 19 RADIATION 22 Ionizing Radiation 22 Background Radiation 27 Man-made Radiation 30 DOSE AND CONSEQUENCE 32 Radiation Sickness 32 Radiation and Mutation 33 Dosage Rates 37 Effects on Mammals 40 Conclusion 43 SUGGESTED REFERENCES 47

THE COVER

The Genetic Effects of Radiation

THE MACHINERY OF INHERITANCE

Introduction

There is nothing new under the sun, says the Bible. Nor is the sun itself new, we might add. As long as life has existed on earth, it has been exposed to radiation from the sun, so that life and radiation are old acquaintances and have learned to live together.

We are accustomed to looking upon sunlight as something good, useful, and desirable, and certainly we could not live long without it. The energy of sunlight warms the earth, produces the winds that tend to equalize earth's temperatures, evaporates the oceans and produces rain and fresh water. Most important of all, it supplies what is needed for green plants to convert carbon dioxide and water into food and oxygen, making it possible for all animal life to live.

Yet sunlight has its dangers, too. Lizards avoid the direct rays of the noonday sun on the desert, and we ourselves take precautions against sunburn and sunstroke.

The same division into good and bad is to be found in connection with other forms of radiation--forms of which mankind has only recently become aware. Such radiations, produced by radioactivity in the soil and reaching us from outer space, have also been with us from the beginning of time. They are more energetic than sunlight, however, and can do more damage, and because our senses do not detect them, we have not learned to take precautions against them.

To be sure, energetic radiation is present in nature in only very small amounts and is not, therefore, much of a danger. Man, however, has the capacity of imitating nature. Long ago in dim prehistory, for instance, he learned to manufacture a kind of sunlight by setting wood and other fuels on fire. This involved a new kind of good and bad. A whole new technology became possible, on the one hand, and, on the other, the chance of death by burning was also possible. The good in this case far outweighs the evil.

In our own twentieth century, mankind learned to produce energetic radiation in concentrations far surpassing those we usually encounter in nature. Again, a new technology is resulting and again there is the possibility of death.

The balance in this second instance is less certainly in favor of the good over the evil. To shift the balance clearly in favor of the good, it is necessary for mankind to learn as much as possible about the new dangers in order that we might minimize them and most effectively guard against them.

To see the nature of the danger, let us begin by considering living tissue itself--the living tissue that must withstand the radiation and that can be damaged by it.

Cells and Chromosomes

After the fertilized ovum is formed, it divides and becomes two cells. Each daughter cell divides to produce a total of four cells, and each of those divides and so on.

There is a high degree of order and direction to those divisions. When a human fertilized ovum completes its divisions an adult human being is the inevitable result. The fertilized ovum of a giraffe will produce a giraffe, that of a fruit fly will produce a fruit fly, and so on. There are no mistakes, so it is quite clear that the fertilized ovum must carry "instructions" that guide its development in the appropriate direction.

When a cell is undergoing division , the number of chromosomes is temporarily doubled, as each chromosome brings about the formation of a replica of itself. As the cell divides, the chromosomes are evenly shared by the new cells in such a way that if a particular chromosome goes into one daughter cell, its replica goes into the other. In the end, each cell has a complete set of pairs of chromosomes; and the set in each cell is identical with the set in the original cell before division.

Interphase Prophase Metaphase Anaphase Telophase Interphase

In this way, the fundamental "instructions" that determine the characteristics of a cell are passed on to each new cell. Ideally, all the trillions of cells in a particular human being have identical sets of "instructions".

Enzymes and Genes

Every different pattern of amino acids forms a molecule with its own set of properties, and there are an enormous number of patterns possible. In an enzyme molecule made up of 500 amino acids, the number of possible patterns can be expressed by a 1 followed by 1100 zeroes .

Every cell has the capacity of choosing among this unimaginable number of possible patterns and selecting those characteristic of itself. It therefore ends with a complement of specific enzymes that guide its own chemical changes and, consequently, its properties and its behavior. The "instructions" that enable a fertilized ovum to develop in the proper manner are essentially "instructions" for choosing a particular set of enzyme patterns out of all those possible.

The differences in the enzyme-guided behavior of the cells making up different species show themselves in differences in body structure. We cannot completely follow the long and intricate chain of cause-and-effect that leads from one set of enzymes to the long neck of a giraffe and from another set of enzymes to the large brain of a man, but we are sure that the chain is there. Even within a species, different individuals will have slight distinctions among their sets of enzymes and this accounts for the fact that no two human beings are exactly alike .

If a particular enzyme is, for any reason, formed imperfectly or not at all, this may show up as some visible abnormality of the body--an inability to see color, for instance, or the possession of two joints in each finger rather than three. It is much easier to observe physical differences than some delicate change in the enzyme pattern of the cells. Genes are therefore usually referred to by the body change they bring about, and one can, for instance, speak of a "gene for color blindness".

A gene may exist in two or more varieties, each producing a slightly different enzyme, a situation that is reflected, in turn, in slight changes in body characteristics. Thus, there are genes governing eye color, one of which is sufficiently important to be considered a "gene for blue eyes" and another a "gene for brown eyes". One or the other, but not both, will be found in a specific place on a specific chromosome.

Parents and Offspring

How does the fertilized ovum obtain its particular set of chromosomes in the first place?

In the process of fertilization, a sperm cell from the father enters and merges with an egg cell from the mother. The fertilized ovum that results now has a full set of 23 pairs of chromosomes, but of each pair, one comes from the father and one from the mother.

In this way, each newborn child is a true individual, with its characteristics based on a random reshuffling of chromosomes. In forming the sex cells, the chromosome pairs can separate in either fashion . If each of 23 pairs does this randomly, nearly 10 million different combinations of chromosomes are possible in the sex cells of a single individual.

Furthermore, one can't predict which chromosome combination in the sperm cell will end up in combination with which in the egg cell, so that by this reasoning, a single married couple could produce children with any of 100 trillion possible chromosome combinations.

It is this that begins to explain the endless variety among living beings, even within a particular species.

Interphase Prophase Metaphase Anaphase Interphase Metaphase Interphase

MUTATIONS

Sudden Change

Shifts in chromosome combinations, with or without crossovers, can produce unique organisms with characteristics not quite like any organism that appeared in the past nor likely to appear in the reasonable future. They may even produce novelties in individual characteristics since genes can affect one another, and a gene surrounded by unusual neighbors can produce unexpected effects.

We must be careful how we use this term. A child may possess some characteristics not present in either parent through the mere shuffling of chromosomes and not through mutation.

Suppose, for instance, that a man is heterozygous to eye color, carrying one gene for brown eyes and one for blue eyes. His eyes would, of course, be brown since the gene for brown eyes is dominant over that for blue. Half the sperm cells he produces would carry a single gene for brown eyes in its half set of chromosomes. The other half would carry a single gene for blue eyes. If his wife were similarly heterozygous , half her egg cells would carry the gene for brown eyes and half the gene for blue.

If, however, there were no record of, say, anything but normal color vision in a child's ancestry, and he were born color-blind, that could be assumed to be the result of a mutation. Such a mutation could then be passed on by the normal modes of inheritance and a certain proportion of the child's eventual descendants would be color-blind.

Less extreme changes take place, too, as when a particular chromosome breaks and fails to reunite, or when several break and then reunite incorrectly. Under such conditions, the mechanism by which chromosomes are distributed among the daughter cells is not likely to work correctly. Sex cells may then be produced with a piece of chromosome missing, or with an extra piece present.

In 1959, such a situation was found to exist in the case of persons suffering from a long-known disease called Down's syndrome. Each person so afflicted has 47 chromosomes in place of the normal 46. It turned out that the 21st pair of chromosomes consists of three individuals rather than two. The existence of this chromosome abnormality clearly demonstrated what had previously been strongly suspected--that Down's syndrome originates as a mutation and is inborn .

The process by which a gene produces its own replica is complicated and, while it rarely goes wrong, it does misfire on occasion. Then, too, even when a gene molecule is replicated perfectly, it may undergo change afterward through the action upon it of some chemical or other environmental influence. In either case, a new variety of a particular gene is produced and, if present in a sex cell, it may be passed on to descendants through an indefinite number of generations.

Spontaneous Mutations

Ideally, matters are so arranged within the cell that the necessary changes giving rise to the desired pattern are just those that have a maximum probability. Other changes are less likely to happen but are not absolutely excluded. Sometimes through the accidental jostling of molecules a wrong turn may be taken, and the result is a spontaneous mutation.

We might consider a mutation to be either "good" or "bad" in the sense that any change that helps a creature live more easily and comfortably is good and that the reverse is bad.

It seems reasonable that random changes in the gene pattern are almost sure to be bad. Consider that any creature, including man, is the product of millions of years of evolution. In every generation those individuals with a gene pattern that fit them better for their environment won out over those with less effective patterns--won out in the race for food, for mates, and for safety. The "more fit" had more offspring and crowded out the "less fit".

Pleistocene and Recent Pliocene Miocene Oligocene Eocene

Yet over the eons, creatures have indeed changed, largely through the effects of mutation. If mutations are almost always for the worse, how can one explain that evolution seems to progress toward the better and that out of a primitive form as simple as an amoeba, for instance, there eventually emerged man?

In the first place, environment is not fixed. Climate changes, conditions change, the food supply may change, the nature of living enemies may change. A gene pattern that is very useful under one set of conditions may be less useful under another.

Suppose, for instance, that man had lived in tropical areas for thousands of years and had developed a heavily pigmented skin as a protection against sunburn. Any child who, through a mutation, found himself incapable of forming much pigment, would be at a severe disadvantage in the outdoor activities engaged in by his tribe. He would not do well and such a mutated gene would never establish itself for long.

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