Molecular mechanisms of inherited disorders Flashcards
how is the CFTR channel activated
phosphorylation by PKA
genetic inheritance of cystic fibrosis
autosomal recessive
most common cause of mortality and moribidity in patients with cystic fibrosis
respiratory infections
most males with CF are infertile because they lack a
vas deferens
CF results from mutations on the _____ arm of chromosome ___
long, 7
missing amino acid in mutated protein of CF
phenylalanine
the CFTR mutation in CF occurs at position
508
in sickle cell, _______ is replaced with _____ at the ____ position of the beta globin chain of hemoglobin
glutamate, valine, 6th
where does sickle cell conformational change occur
in the capillaries after unloading
type of bilirubin that is increased during sickle cell crisis
unconjugated
what is acholuric jaundice
when bilirubin is absent in urine
people with sickle cell may develop pigmented gall stones due to
excessive loss of conjugated bilirubin
dystrophin gene is located on which chromosome
x
disorder with complete absence of functional dystrophin
DMD
disorder due to production of abnormal dystrophin
BMD
X-linked disorders are more common in
males
type of mutation in DMD
frameshift
purpose of dystrophin
anchors the cytoskeleton the muscle cells to the extracellular matrix to stabilize the plasma membrane during muscle contraction
