INHERITED DISEASES Flashcards
abbreviation of CF
Cystic fibrosis
symptoms of cf
Accumulation of mucus
Recurrent infection with Pseudomonas aeruginosa
Excessive inflammation in the lungs
what is CF
CF is a multisystem autosomal recessive disorder affecting the pulmonary, gastrointestinal and reproductive organs
on chromosome 7 what does cf gene codes for
for the CF transmembrane conductance regulator protein (CFTR).
what causes CF
to different mutations on the CFTR protein
what is cf gene involved in
in the transport of Sodium, Potassium, and ATP as well as chloride conductance
how is CFTR mutations diagnosed
DNA testing
What is hereditary hemochromatosis (HH)
HH is an autosomal recessive disorder of iron regulation
mention 4 reason why DNA is perfomed
- Confirm diagnosis
- Determine prognosis
- Prenatal testing
- Identify family members at risk
- Newborn screening for early diagnosis
- Screening of expectant couples or couples considering having children
How is hereditary hemochromatosis characterised
deposition of iron in the tissues
What type of genetic disorder is Hemochromatosis (HH) and what does it regulate
Hemochromatosis (HH) is an autosomal recessive disorder that regulates iron.
What tests are conducted once mutations of the HFE gene are confirmed
Once mutations of the HFE gene are confirmed, transferrin saturation, serum ferritin, and DNA testing of at-risk family members are conducted.
Why is it important to perform DNA testing on at-risk family members once an HFE gene mutation is confirmed?
It is important to perform DNA testing on at-risk family members to identify those who may also have the mutation and be at risk of developing Hemochromatosis, allowing for early intervention and management.
Which gene is analyzed to assess mutations associated with Hemochromatosis and on which chromosome is it located
The HFE (Homeostatic Iron Regulator) gene is analyzed to assess mutations associated with Hemochromatosis. It is located on Chromosome 6.
What type of genetic disorder is Hereditary Hemochromatosis (HH) and what does it regulate?
Hereditary Hemochromatosis (HH) is an autosomal recessive disorder that regulates iron
What characterizes Hereditary Hemochromatosis (HH)?
HH is characterized by the deposition of iron in tissues.
Which gene is analyzed to assess mutations associated with Hereditary Hemochromatosis and on which chromosome is it located?
The HFE (Homeostatic Iron Regulator) gene is analyzed to assess mutations associated with Hemochromatosis. It is located on Chromosome 6.
What tests are conducted once mutations of the HFE gene are confirmed?
Once mutations of the HFE gene are confirmed, transferrin saturation, serum ferritin, and DNA testing of at-risk family members are conducted.
Why is DNA testing of at-risk family members important once an HFE gene mutation is confirmed?
DNA testing of at-risk family members is important to identify those who may also have the mutation and be at risk of developing Hemochromatosis, allowing for early intervention and management.
What is the role of transferrin saturation and serum ferritin tests in the context of Hereditary Hemochromatosis?
Transferrin saturation and serum ferritin tests help measure iron levels in the blood, which can indicate iron overload, a key characteristic of Hereditary Hemochromatosis.
What is Carbamoyl phosphate synthetase I (CPS I) deficiency and how is it inherited?
CPS I deficiency is an autosomal recessive error of metabolism located on Chromosome 2
Where in the cell is CPS I found, and what is its role in metabolism?
CPS I is found in the mitochondrial matrix and it catalyzes the first step of the urea cycle.
What are the clinical consequences of CPS I deficiency?
CPS I deficiency is characterized by the accumulation of ammonia, which can lead to coma and death
How is DNA testing for CPS I deficiency performed?
DNA testing for CPS I deficiency involves indirect testing using linkage studies.
What are linkage studies, and how are they used in the context of CPS I deficiency?
Linkage studies are a method of DNA testing that use highly pleomorphic DNA sequences physically attached to the disease gene to identify genetic mutations.
Explain the significance of the accumulation of ammonia in CPS I deficiency.
The accumulation of ammonia in CPS I deficiency is significant because it is toxic and can lead to severe health issues such as neurological damage, coma, and death if not properly managed
