RUSHED OVERVIEW OF DISEASES COVERED Flashcards
Ataxia Telangiectasia, What method of inheritance?
What is the mutated gene?
What are the symptoms
Inherited autosomal recessively - more likely to occur as result of co sanguinity
Mutation in the ATAXIA TELANGIECTASIA MUTATED gene. leads to a failure of homology directed repair
small cerebellum, sensitivity to UV
CRI DU CHAT syndrome (cry of cat)
Symptoms and signs
What causes it?
Example of a gene that is lost?
Often have a high pitched cry like a cat, intellectual disability, delayed development, microcephaly, hypotonia, widely set eyes, small jaw.
Deletion of the short arm of chromosome 5.
Losing function of CTNND2
Cystic Fibrosis
Symptoms and signs
What mode of inheritance and what gene is affected?
What causes it?
Cystic fibrosis is most evident by damage to linds and digestive system, excessive mucous clogs airways, causes breathing problems, increasing chance of infection. Causes formation of cysts and scar tissue- fibrosis. Can have a form of diabetes causes by damage to the pancreas by excessive mucus buildup.
Caused by CFTR gene mutation, it is autosomal recessive.
CFTR is a chloride ion channel, changed amount of salt in the patients sweat and mucous, cant pull out so much water, so relaly thick mucous.
Diamond Blackfan Anaemia:
What is it?
Treatment?
What causes it?
It is a ribosomopathy, bone marrow most affected, bone marrow fails to make enough red cells, leading to weakness, fatigue and pallor. Craniofacial abnormalities, cardiac defects, cleft palate, urogenital malformations, increased risk of bone cancer.
Can be treated with bone marrow transplants, blood transfusions, corticosteroids.
Caused by mutation affecting genes coding for sections of ribosomes.
Down Syndrome.
What is it?
What causes it?
Down syndrome is a complex disease involving physical problems and intellectual disability. May lead to heart disease, dementia, hearing problems, skeletal problems, intestines, eyes, thyroid.
Caused by trisomy of chromosome 21. - Non disjunction during meiosis. Failure of chromosomes to seperate properly at metaphase plate. One daughter cell has two copies, one no copies. Polyploidy comes from fertilisaiton of the two copies cell.
Haemophilia A
What type of inheritance, what does this lead to?
What gene is it?
What is it?
X linked recessive disease, more common in men due to only one X.
F8 gene on x chromosome
Bleeding disorder, no clotting factor VIII, blood cant clot properly.
Huntington’s Disease
What is it?
What Causes it?
Huntington’s disease os a progressive neurogenerative disease, symptoms appear at middle age, genetic councelling is required. Uncontrolled movements, clumsiness and balance problems. No cure.
It is caused by inheriting extra polyglutamine (CAG) repeats in the huntingtin protein. More than 37 repeats causes protein misfolding, causing aggregates that lead to neuronal death in the basal ganglia of the brain.
Lynch syndrome.
What disease does it increase the risk of?
What is its other name?
What causes the probelms?
also known as Hereditary nonpolyposis colorectal cancer.
Inherited disorder which increases chance of colorectal cancer. As well as other cancers. Women more likely to get cancer as a result of disorder because cancers of their reproductive tract is also affected. - Ovaries and Uterus.
Multiple mutations required for malignancy.
Initial mutation leads to hyperproliferation, which is then turned into an adenoma, then a carcinoma by lots of mutations
DNA mismatching repair problem in lynch syndrome.
Osteogenesis Imperfecta
What is it?
Symptoms and Signs
How is it inherited?
What causes the problems?
OI causes bones to fracture more easily (brittle bone disease). Can cause muscle weakness britte teeth hearing loss and curved spine. Sclera appears blue.
Caused by a mutation of COL1A gene.
COME BACK TO
Patau syndrome.
Symptoms and signs
What causes it?
Patau syndrome causes intellectual disability and motor changes, microcephaly, holoprosencephaly, cleft palate, polydactyly. kidney and heart defects.
Caused by trisomy of 13 chromosome.
Sickle cell anaemia.
Autosomal Recessive. Mutation in Beta haemoglobin gene, causing production of the Hs haemoglobin. Hs/Hs is affected, Hs/Hb has evolutionary benefit in antimalria
Turner Syndrome
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Incomplete X chromosome, affects girls, includes symptoms of being short, infertile, having short webbed neck. low set ears, swollen hands and feet. Hormone treatment can help patients attain normal growth, sometimes allows sexual development allowing pregnancy.
