The inability to attach proteins requiring a glycosylphosphatidylinositol (GPI) link to the membrane surface is found in:

a. Paroxysmal nocturnal hemoglobinuria
b. Hereditary spherocytosis
c. Paroxysmal cold hemoglobinuria
d. Hereditary elliptocytosis


ANS: A
Proteins missing on the surface of paroxysmal nocturnal hemoglobinuria cells are all linked by GPI to the membrane. This has led to identification of the PIGA (phosphatidylinositol glycan anchor biosynthesis, class A) gene, which is mutated in paroxysmal nocturnal hemoglobinuria; this gene is located on the X chromosome.

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