Gene deletion can cause serious abnormalities and disorders in organisms, including birth defects and cancer. Scientists use gene deletion in animals to study disorders and develop knockout mice for research. Not having certain genes can also have positive effects, but research into genes is complex. Juvenile Paget’s disease has been linked to gene deletion.
Gene deletion is a loss of genetic material that can lead to serious abnormalities in an organism. Absence of the gene can be caused by any number of characteristics, including errors during meiosis, disruption, and translocation. Any animal can experience a gene deletion and is sometimes associated with quite severe ailments and a shortened lifespan. The size of the discarded material, which can range from small to large, may have some effect on whether the disturbance simply causes trouble or results in fatal accidents. Many human genetic diseases are linked to gene deletion, often of a specific gene.
Most people encounter the concept of a gene deletion through its manifestation as a disorder. The absence of genetic material can create birth defects and may be related to some forms of cancer. Specific disorders, such as cri du chat, are relatively well known, while rarer deletions can cause a somewhat less defined set of symptoms. When the deletion is as minor as the absence of a single base pair, it may not seriously affect life, but missing large sections of DNA can significantly reduce an organism’s chance of survival. In some cases, the gene deletion is also related to cancer.
Scientists often use gene deletion in animals to study a variety of disorders. By isolating a single factor, scientists can often determine the function of that section of genetic material. Genetically engineered mice that undergo engineered mutations to deactivate specific sections of genetic material are sometimes called knockout mice and can be used for further research into a variety of human ailments. Often, this type of research animal is used to model specific ailments such as obesity or arthritis.
The loss of genetic material does not always have a negative effect on organisms. Sometimes, not having certain genes can make an animal smarter or less susceptible to a variety of ailments. In many cases, animals lacking genetic material are not sick but simply different. The survival of many knockout mice attests to the wide variety of possible mutations.
Because research into genes is relatively complex, it may be possible to find out which disorders are caused by this type of gene mutation by looking at people who have symptoms in common and finding out what they share genetically. Juvenile Paget’s disease, for example, has been linked in this way to gene deletion. The precise function of each piece of genetic material is difficult to map, so functional examples of organisms that actually lack a gene can give insight into what the genetic material does.
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