The Term "mutation" comes from the Latin word "mutatio", which literally means change or transformation. Mutational variability indicates a sustained and obvious change in the genetic material that is displayed in the hereditary characteristics. This is the first link in the chain of formation of hereditary diseases and pathogenesis. This phenomenon has been actively studied only in the second half of the 20th century, and nowadays more and more often hear that mutational variability should be studied, as the knowledge and the understanding of this mechanism becomes the key to overcome the problems of mankind.
There are several types of mutations in cells. Their classification depends on the cells themselves. Generative mutations occur in germ cells, there are also GENETIChESKIE cells. Any changes are inherited and are often found in the cells of the offspring, from generation to generation, a number of deviations, which ultimately cause diseases.
Somatic mutations belong to the asexual cells. Their peculiarity is that they appear only in the individual, which appeared. I.e. the changes are not transmitted to other cells, but only in division within the body. Somatic mutational variability is more noticeable when it starts in the early stages. If a mutation happens in the first cleavage stages of the zygote, there is more cell lines with different from other genotypes. Accordingly, more cells will carry the mutation, such organisms are called mosaic.
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Levels of genetic structures
Mutational variability is evident in genetic structure, different level of the organization. Mutations can occur at the gene, chromosome and genomic levels. Depending on this change and the types of mutational variability.
Genetic changes affect the structure of DNA, with the result that it changes at the molecular level. Such changes in some cases does not affect the viability of the protein, i.e. the function does not change. But in other cases, there may occur defective education, which already stops the ability of protein to perform its function.
Mutations at the chromosomal level are more severe because they affect the formation of chromosomal disorders. The result of this variability are changes in the structure of chromosomes, and it has enabled several genes. This can change the normal diploid set, which, in turn, can generally affect DNA.
Genomic mutations as well as chromosomal can cause the formation of chromosomal diseases. Examples of mutational variability at this level - aneuploidy and polyploidy. The increase or decrease in the number of chromosomes, which for humans are often fatal.
Genomic mutations refers to trisomy, meaning the presence of three homologous chromosomes in the karyotype (increase the number). Such a deviation leads to the formation of Edwards syndrome and down syndrome. Monosomy means having only one of the two homologous chromosomes (reduction), which virtually eliminates the normal development of the embryo.
The Cause of such phenomena are disorders at different stages of development of germ cells. This is the result of anaphase lag - homologous chromosomes when dividing cells are moving toward the poles, and one of them may lag. There is also the concept of "neraskhozhdenie", when the chromosomes are unable to divide at mitosis or meiosis. The result of this is a manifestation of violations of varying severity. The study of this phenomena will help to unravel mechanisms and, probably, will allow to predict and influence these processes.
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