Genetic Disorder Assignment Paper
Life on Earth relies on the mutation of DNA. Mutations allow organisms to evolve, making them healthier and more capable of surviving. While many mutations occur that help species to survive, there are also just as …show more content…
The gene for Huntington’s disease is found only on the X chromosome, making it a sex-linked trait.Genetic Disorder Assignment Paper Since the gene is found on the X chromosome, it can only be given to offspring by the mother’s DNA. Sex-linked traits can only be expressed if there is not another X chromosome to counter the mutated gene with its normal gene. This puts males (have X and Y chromosomes) at a huge disadvantage because they do not have another X chromosome like females (have two X chromosomes) do. Males with mothers who are carriers of the mutated gene have a fifty percent chance of inheriting disease because there are two X chromosomes (one has the mutated gene) in which they can be given. This is why sex-linked traits, such as the gene for Huntington’s disease, most often affect males. Although females of mothers with the mutated gene are less likely to be affected by the mutated gene, they can be carriers of the mutated gene and pass it on to their offspring.
Although there is no cure for Huntington’s disease, scientists have made a lot of progress towards finding a cure. In 1983, a scientist named Nancy Wexler and others discovered that the gene for Huntington’s disease was located on the short arm of chromosome 4.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.Genetic Disorder Assignment Paper
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome.Genetic Disorder Assignment Paper
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