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Autosomal Traits Blog

We learned about the difference between autosomal dominant diseases and autosomal recessive diseases. An autosomal disease is when there is a genetic mutation on one of the twenty-two chromosomes, never on a sex chromosome. For autosomal dominant diseases, we learn that there need to be only one copy of the DNA mutation between parents. Which can result in their offspring having a 50% chance of inheriting the gene. These people are called heterozygotes if they carry one good gene and one bad gene. The disorder tends to occur in each generation of the family, but can also occur as a new disease in the offspring. The good side is that the offspring that does not inherit the gene cannot pass it on to their offspring. You can also tell if the disease is dominant if the males and females affected are roughly proportionate or if the transmission is present in all forms, such as male to male, female to female, male to female, and female to male. Some examples of autosomal dominant diseases are Huntington Disease, Marfan Syndrome, Myotonic Dystrophy, and Ehlers-Danlos syndrome.

For the autosomal recessive diseases, we learn that there are two copies of abnormal genes must be present. Both parents must have a copy of the DNA mutation, but they don’t have the disease themselves and they are called carriers. From the parents, there is a 25% the offspring will be normal, a 50% they are carriers, and 25% they would get the disease. The people are called homozygotes if they carry two copies of the altered gene. Although, the disease is not typically seen in every generation, the recessive diseases become more prominent in mennonites because of the inbreeding. You can tell if a disease is an autosomal recessive if the disease is roughly proportional between the males and females, if not every generation has the appearance of the disease, or if the parents have a common ancestor with the gene, the disease becomes more present in the offspring. Some examples of autosomal recessive diseases are Cystic Fibrosis, Sickle-Cell Anemia, Beta-Thalassaemia, and Tay-Sachs Disease.

Personally, I believe genetics are very helpful for people to understand themselves. Genetics help families and individuals see different traits that define them and can spot disease that might be life threatening. For example, my family has EDS, which we would have never known if we didn’t have a genetics test. Using genetics provides advantages for science and for health.

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