The Most Common Human Genetic Mutations And Disorders

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The human body is made from instructions from our DNA. The deoxyribonucleic acid is a double chain or helix-like structure found in every cell of the human body. It in turn to comprised of four chemical components called nucleotides: adenine (A), thymine (T), guanine (G) and cytosine (C). These nucleotides go together in a specific way, A only pairs with T, and C only pairs with G. This four letter alphabet and the way it sequences itself is what us human and a horse a horse. A typical human has about three billion of these base pairs located on our 23 chromosomes.

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In some cases, there is a substitution of one nucleotide for another. When this happens, a mutation is said to occur. Gene mutation occurs fairly often in humans, but most have little effect. This is because a lot of our DNA is considered “junk” in that it really doesn’t encode any critical information into our existence. But still, every human has about 100-200 mutations compared to their parents.

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Some of the mutations in active genes do express themselves in unique and sometimes harmful ways. One of the more common ways this mutation is seen is called heterochromia. This condition is usually a difference in the color of the iris of the eyes, but can also be applied to hair and skin. While some cases can result from disease or injury, by far the most common is genetic.

Heterochromia

Heterochromia comes in three varieties. In sectoral or partial heterochromia, the iris has two entirely different colors in the same area. Partial heterochromia appears as an irregular spot that is a different color than the person’s eye color and does not form a complete ring around the person’s pupil.

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Central heterochromia is often referred to as, ‘cat eyes’. People with this form of heterochromia have two different colors in one of their irises. One color is in the central portion of the iris while the outer edge is a different color.

Incomplete heterochromia a person’s eyes are two different colors, for example, one eye is green while the other is brown. This is the most dramatic of all the forms of heterochromia and is common in cats and other animals.

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