Flashcards in Biochemistry Deck (372)
Which disease is known to have variable expresstivity?
Which disease is known to have Incomplete Penetrance?
Which disease is known to have Pleiotropy?
What disease is fatal if somatic but survivable if mosaic?
Does RB release E2F when hyper or hypo phosphorylated?
What is the function of p27?
cell cycle inhibitor
What is heterodisomy?
inheritance of two non-identical chromosomes from a parent
Heterodisomy indicates an error in what stage of replication?
What is isodisomy?
inheritance of two identical chromosomes from a parent
Isodisomy indicates an error in what stage of replication?
What is the sole lipoprotein of LDL?
What are allotypes?
inherited constant regions of heavy and light Ig
What is an Idiotype?
antigen recognition sequence of immunoglobulin
What are the three X-Linked Dominant diseases?
What enzymes are deficient in MERRF?
Which acid/base abnormality can present during MERRF?
Which cranial nerve abnormality can MERFF have?
Which B-vitamin deficiency can be mimmicked in MERFF? Manifesting as?
What does MELAS mean?
Myoclonic epilepsy with lactic acidosis and stroke like symptoms
Which chromosome is PKD1 on?
Which chromosome is PKD2 on?
What is the mode of inheritance of Familial Hypercholesterolemia?
Does Huntingtons have an increased or decreases level of Ach?
Marfan Syndrome involves what chromosome?
What is the diretion of the lens Sublaxation during Marfan?
What disease presents with Multiple Benign Hamartomas?
What four cancera arise during LiFraumeni?
What is the mode of inheritance for LiFraumeni Syndrome?
What protein does VHL bind and inhibit?