Flashcards in Biochemistry Deck (372)
What body part can be absent in males with cystic fibrosis?
What is the inheritance pattern of Bruton Agammaglobulinemia?
What type of infection do patients with Bruton Agammaglobulinemia develop? At what age?
What is the inheritance pattern of Wiskott-Aldrich?
What is the triad of Wiskott-Aldrich?
eczema, thrombocytopenia, immune deficiency
In what disease can T-cells not reorganize their actin cytoskeleton?
What enzyme is deficient in Fabry disease? What product accumulates?
The production of what product is inhibited in G6PD deficiency?
What enzyme is deficient in Hunter Syndrome?
What two products accumulate in Hunter Syndrome?
dermatin sulfate and heparin sulfate
What reaction is catalyzed by Ornithine Transbarbamoylase One?
carbamoyl phosphate and ornithine into citrulline
What is the mnenomic to remember X-linked recessive diseases?
Be Wise, Fools GOLD Heeds Silly HOpe
What is the most common death of a patient with DMD?
What happens to dystrophin during DMD?
What two proteins does dystrophin link?
actin and dystroglycan
What two serum protein markers are present in DMD?
CPK and aldolase
What type of mutation usually takes place in DMD?
What type of mutation usually takes place in BMD?
What trinucleotide repeat is present in myotonic dystrophy type 1?
Which protein is improperly expressed in myotonic dystrophy type 1?
myotonin protein kinase
Other than myotonia and muscle wasting, what are two more symptoms of myotonic muscular dystrophy type 1?
frontal balding and cataracts
What trinucleotide repeat is present in Fragile X?
What gene is effected during Fragile X? What post-transcriptional modification is effected?
What three body parts are enlarged during Fragile X?
testes, jaws and ears
What is the trinucleotide expansion in Friedrich's Ataxia?
Where is trisomy in Edwards Syndrome?
What two GI diseases can a person with Downs develop?
What is the most common heart defect for a patient with Downs Syndrome?
ASD (ostium primum)
What two types of cancer is a patient with Downs syndrome predisposed to?
ALL and AML