Cystic fibrosis, also known as mucoviscidosis is an extremely common genetic disease in the UK. The genetic defect was identified by a group of scientists in 1989.In the UK it has been found that 1 in 25 people carry the faulty CF allele. CF is caused by deletion of 3 nucleotides in chromosome 7. The amino acid phenylalanine is lost as a result of this mutation. It is autosomal recessive so both the CFTR alleles should be faulty to cause the disease.
Many of the epithilial linings of the ducts in the human body have a layer of mucus on it. It helps trap dust particles and microorganisms that enter the body. Patients of CF however have very thick and dry mucus. The hair like structures called cillia can then no longer move freely and less oxygen …show more content…
It is a recessive condition on the chromosome X, so the probability of males inheriting the disease is higher than in females due to the presence of only 1 X chromosome. For females however since they have two X chromosomes, inheriting only 1 faulty X makes them carriers. To have the disease, both the X chromosomes should be faulty. Around 1 in 30,000 people are found to have Haemophilia A.
Blood clotting requires certain types of clotting factors. Haemophilia patients however lack the clotting factor type V111. This is caused by inversion mutations at Xq28.
As a result of this mutation, patients have very slow rate of blood coagulation. Hence they suffer from prolonged internal and external bleeding at various instances. Nosebleeds and blood in urine and stools is also common among victims. When internal bleeding occurs at joints it causes joint aches and arthritis. One example of a severe complication by the disease is an intracranial haemorrhage, which causes a build-up of pressure in the skull that may lead to death.
Like most diseases caused by gene mutations there is no cure, but there are quite a handful of treatments available for haemophilic patients. This …show more content…
It is most common in Jewish factions. It is caused by a frame-shift mutation occurring in the gene coding for the alpha sub-unit in beta-hexoaminidase. Tay- Sachs is commonly caused due to a frameshift mutation which brings about the stop codon earlier than usual. This results in large amounts of gangliosides collecting in the neurones of the brain. These surplus gangliosides may cause death of the neurones.
An individual possessing two healthy HEXA genes is free from Tay Sachs, while a person with one mutated HEXA gene is a carrier. Only when both the HEXA genes are faulty will the person have the disease.
Tay Sachs may occur in three different forms. Infantile Tay Sachs disease and Juvenile Tay Sachs disease are fatal and often lead to death. Late-onset Tay-Sachs in contrast is not fatal. Patients with this form of Tay Sachs suffer from dementia and muscle weakness
Tay Sachs disease is diagnosed by blood tests in order to observe the level of Hexominidase A. In a positive result the level would be very low. Another symptom is a characteristic red spot which is present in the victim's
Many of the epithilial linings of the ducts in the human body have a layer of mucus on it. It helps trap dust particles and microorganisms that enter the body. Patients of CF however have very thick and dry mucus. The hair like structures called cillia can then no longer move freely and less oxygen …show more content…
It is a recessive condition on the chromosome X, so the probability of males inheriting the disease is higher than in females due to the presence of only 1 X chromosome. For females however since they have two X chromosomes, inheriting only 1 faulty X makes them carriers. To have the disease, both the X chromosomes should be faulty. Around 1 in 30,000 people are found to have Haemophilia A.
Blood clotting requires certain types of clotting factors. Haemophilia patients however lack the clotting factor type V111. This is caused by inversion mutations at Xq28.
As a result of this mutation, patients have very slow rate of blood coagulation. Hence they suffer from prolonged internal and external bleeding at various instances. Nosebleeds and blood in urine and stools is also common among victims. When internal bleeding occurs at joints it causes joint aches and arthritis. One example of a severe complication by the disease is an intracranial haemorrhage, which causes a build-up of pressure in the skull that may lead to death.
Like most diseases caused by gene mutations there is no cure, but there are quite a handful of treatments available for haemophilic patients. This …show more content…
It is most common in Jewish factions. It is caused by a frame-shift mutation occurring in the gene coding for the alpha sub-unit in beta-hexoaminidase. Tay- Sachs is commonly caused due to a frameshift mutation which brings about the stop codon earlier than usual. This results in large amounts of gangliosides collecting in the neurones of the brain. These surplus gangliosides may cause death of the neurones.
An individual possessing two healthy HEXA genes is free from Tay Sachs, while a person with one mutated HEXA gene is a carrier. Only when both the HEXA genes are faulty will the person have the disease.
Tay Sachs may occur in three different forms. Infantile Tay Sachs disease and Juvenile Tay Sachs disease are fatal and often lead to death. Late-onset Tay-Sachs in contrast is not fatal. Patients with this form of Tay Sachs suffer from dementia and muscle weakness
Tay Sachs disease is diagnosed by blood tests in order to observe the level of Hexominidase A. In a positive result the level would be very low. Another symptom is a characteristic red spot which is present in the victim's