Single Gene Disorders Flashcards
What are single gene disorders caused by?
Point mutations
What are autosomal chromosomes?
All chromosomes apart from X and Y
Is cystic fibrosis i) autosomal or sex linked ii) recessive or dominant?
Autosomal recessive
What is cystic fibrosis?
A disorder originating in secretory epithelial tissue
What are symptoms of cystic fibrosis?
Mucus in lungs, pancreas and other organs
Chronic bronchitis
Bacterial infections
What gene is affected to cause cystic fibrosis?
CF gene, regulates flow of chorine ions
F508 is the mutation causing CFTR
What is treatment of cystic fibrosis?
Antibiotics and massage to clear mucus
Is sickle cell anaemia i) autosomal or sex linked ii) recessive or dominant?
Autosomal recessive
What are symptoms of sickle cell anaemia?
Anaemia Dysfunctional RBC Joint pain Swollen spleen Severe infections
What are treatments of sickle cell anaemia?
Regular blood transfusion
What is a cure for sickle cell anaemia?
Bone marrow transplant
What is the cause of sickle cell anaemia?
Mutation in the gene for B-chain of haemoglobin so incorrect folding of protein
Who is sickle cell carriers advantageuos for?
People in areas of malaria as it confers resistance to malaria (heterozygote advantage)
Is huntington’s disease i) autosomal or sex linked ii) recessive or dominant?
Autosomal dominant
What are symptoms of huntingtons disease?
Jerky movement
Personality changes
Deterioration of walking
Why is huntings disease still around?
It is a late onset so they have children before they know they have huntingtons?
What causes huntingtons disease?
35-125 repeats of CAG in HD gene
Is familial hypercholesterolaemia i) autosomal or sex linked ii) recessive or dominant?
Autosomal dominant (incomplete dominance)
What are symptoms of familial hypercholesterolaemia?
High cholesterol levels
Cholesterol build up in joints
Cardiovascular disease
What is treatment for familial hypercholesterolaemia?
Cholesterol lowering drugs
Low cholesterol diet
What causes familial hypercholesterolaemia?
Due to a lack of low density lipoprotein receptor
What are sex linked conditions caused by?
Gene on the X chromosome
Is haemophilia i) autosomal or sex linked ii) recessive or dominant?
Sex linked recessive
What are symptoms of haemophilia?
Bruising
Uncontrolled bleeding
Bleeding into joints
