I will compare and contrast the genetic background of Cystic Fibrosis and Sickle Cell Anaemia. A genetic disorder is an illness caused by changes or mutations in the genome. Mutations are generally abnormalities in the DNA sequence. Genes code for proteins, important molecules in our body that make up the majority of cellular structures and serve crucial functions in essentially all biological processes. Mutations can lead to missing or malformed proteins and that can lead to diseases. This is as proteins are unable to carry out their normal function.
Mutations may or may not be heritable
Mutations can be inherited from our parents. These are called germ-line mutations. In non-heritable genetic disorders, defects may be caused by new changes or mutation to the DNA. Mutation can happen during cell division, when DNA is duplicated or also when DNA gets damaged by the lifestyle we choose and environmental factors, including UV radiation, chemicals, and viruses.
Autosomal recessive disorders
…show more content…
From that, we know the gene is on an autosome, which is a non-sex chromosome. The word recessive tells us that the individual has to be a homozygous recessive, with two copies of the gene, to express the trait or disorder. One is inherited from the mother, and one from the father. Carriers, individuals who only have one recessive gene, are not affected by the disease but are able to pass it down to their children. Most people are not aware they carry a recessive gene for a disease until they have a child with the disease. If both parents are carriers, there is a 25% chance of a child inheriting both recessive genes and developing the disease. There is a 50% chance of a child being a carrier, and there is a 25% chance of the child inheriting both dominant