Chromosomal mutations can be detected by looking at DNA through a microscope. Chromosomal deletion is a type of mutation where part of a chromosome is removed, affecting genetic information. The severity of the effects depends on the size and location of the deletion. Many human disorders are caused by chromosomal deletion, such as cri-du-chat and some cases of Duchenne muscular dystrophy.
A chromosomal deletion is a form of chromosomal mutation. Chromosomal mutations are due to changes in the structure of a chromosome, as opposed to gene mutations, which are changes within the chemical makeup of a chromosome. Chromosomal mutations can actually be detected by looking at DNA through a microscope. Mutations are changes in DNA and can have negative or positive consequences.
Inside the nucleus of living cells, DNA is found in strands called chromosomes. Each type of organism has a specific number of chromosomes within its cells. For example, humans have 46 chromosomes or 23 identical pairs. Along the chromosomes, genes specify characteristics of cells and, ultimately, of the organism. Any mutation that occurs on a chromosome will affect this genetic information.
When a chromosomal deletion occurs, part of a chromosome is removed or deleted. Most often, chromosomes can be found as long, thin strands of DNA in the nucleus. They’re all wrapped up around each other, so there’s plenty of opportunity for them to interact with other chromosomes as well as with themselves.
During a chromosomal deletion, the chromosome breaks in two different places. When the pieces join again, the end pieces are attacked and the center piece is eliminated. This central piece of the chromosome has now been deleted. Depending on what genetic information is carried on the deleted piece of chromosome, the effects can be very serious. In some cases, this type of deletion can be lethal.
When a chromosomal deletion occurs, the genes in the deleted piece are almost lost in the cell. Since they are no longer part of the chromosome, they will not undergo the processes of transcription and translation, so the appropriate proteins will not be made. Also, if the cell survives and replicates, that piece of DNA won’t be copied, so all subsequent cells will also have this mutation. This type of mutation will have a profound effect on how the organism continues to develop. In reality, all but the shortest chromosomal deletions are lethal to the cell.
Depending on the size of the chromosomal deletion, it can be seen under a microscope. Since the chromosomes come in identical pairs, one from the father and one from the mother, the two pairs can be compared. If there is a significant elimination in one of the pairs, she will look different to her partner. This way it is also possible to determine where the deletion took place.
There are many different human chromosomal disorders caused by a chromosome deletion. There are also many different symptoms and the severity of the symptoms depending on which chromosome has been knocked out and by how much. Examples of disorders caused by chromosomal deletions are cri-du-chat and some cases of Duchenne muscular dystrophy.
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