Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.
The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 40 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with more than 40 repeats almost always develop the disorder.
An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.
Because Huntington's is a genetic disorder and it is known what sequence in what region causes the disorder.
Huntingtons disease is a genetic/inherited diesease. It is caused by a faulty allele (a dominant one), which can be inherited by parents. Spontanoius mutations may also occur which would cause the faulty gene and therefore huntingtons disorder.
The allele that causes Huntington's disease is dominant. This means that there only needs to be one present in the gene for it to show in the person's phenotype.
The DNA sequence of the allele that causes Tay-Sachs disease is different from that of the normal allele. This difference in the DNA sequence allows for specific genetic tests to be conducted to identify the presence of the Tay-Sachs disease allele in individuals.
When it doesn't show it in the diagram.
Hunter's disease is inherited in an X-linked recessive pattern. This means the mutated gene that causes the disease is located on the X chromosome, and males are more commonly affected because they only have one X chromosome. Females can carry the mutated gene but are typically unaffected due to having a second X chromosome that can compensate.
They are a carrier of the disease but do not show any symptoms because they have one normal allele that can compensate for the recessive disease-causing allele. If they have children with a partner who is also a carrier, there is a chance their offspring may inherit two copies of the disease-causing allele and develop the disease.
Both cystic fibrosis and sickle cell anemia are single mutation diseases - one mutation in a single gene is enough to cause the disease. However, for cystic fibrosis both alleles of the gene must be mutated for the disease to develop. For sickle cell anemia, only one allele can carry the mutation and some signs of the disorder will be present. Having two alleles with the mutation causes much more significant disease.
Sickle shaped red blood cells are caused by Sickle Cell Anaemia. This is a recessive genetic disease, and the sickle shapes of the blood cells are caused by a mutation in the haemoglobin gene. This disease can lead to many health complications, many of which can be fatal. A theory behind the existence of this disease is that the possession of only a single mutated allele can give resistance to malaria in individuals and so is most seen in areas where malaria is most prevalent. Possessing two mutated alleles causes the full disease.
Movement. It causes uncontrollable movements known as chorea. It is the highlight of this disease althought it also causes speech problems, sleep disturbances, difficulty chewing and swallowing leading to weight loss and malnutrition, and seizures.
carrier
One example is Huntington's Disease. Carried on a dominant gene, it causes deterioration of the central nervous system, affecting movement, swallowing, personality, etc.