Genetic Diseases I Flashcards
Tay Sachs is what sort of genetic mutation?
Frameshift mutation in which there is an insertion or deletion shifting the reading frame.
In Tay Sachs there is a four base insertion causing a stop codon decreasing heoxaminidase secretion.
Both Huntingtons disease and Fragile X syndrome are results of what type of mutation?
Both results of Trinucleotide repeats.
Von Gerkes disease is a result of?
Lack of gucose-6-phosphatase leading to an increase in glycogen synthesis.
Fasting hypoglycemia
Marfans syndrome is a result of what mutation and has what characteristics?
Result of an autosomal dominant mutation in a fibrillin-1 gene leading to very tall stature and very loose joints.
Dislocation of the lenses and retinal detatchnements are possible.
Ehlers-Danlos Syndrome is a result of what mutation and has what characteristics?
Group of disorders that effect structure, or synthesis of fibrillar collagens.
Which Ehlers Danlos syndrome types are autosomal dominant?
Types 1-4 and 7
Type 1 and 2 Ehlers Danlos syndrome is classified by what?
Severe joint hypermobility dur to defects in type V collagen.
Type IV Ehlers Danlos syndrome is classified by?
Classified by defect in type III collagen
Most severe type rendering patient suceptible to aortic rupturing.
What type of mutation causes neurofobromatosis Type 1
Caused by mutation in NF-1 gene on chromosome 17 which encodes for neurofibromin.
What role does neurofibromin normally have?
Normally functions to inactivate the Ras proto-oncogene.
What is the most common autosomal dominant disorder?
Neurofibromatosis.
Underarm freckling, cafe au lait spots and lisch nodules are all symptoms of what disorder?
Neurofibromatosis.
What type of disorder is Neurofibromatosis Type II?
Bilateral acoustic neurofibromatosis due to mutation in NF-2 gene on chromosome 22 encoding for merlin.
What is NF-2 characterized by?
Schawnommas and juvenile cararacts.
The absence of what enzyme causes Akloptonuria?
What substance is accumulated?
Rare autosomal recessive disease in which there is the Absence of homoentisic acid oxidase causing accumulation of homogentisic acid
