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Lancet. 1994 Apr 16;343(8903):951-3.

Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

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Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.


Patients with paroxysmal nocturnal haemoglobinuria (PNH) have in their blood two red-cell populations, one normal and one deficient in proteins anchored to the membrane through a glycan phosphatidylinositol (GPI) structure. The PNH abnormality is due to a somatic mutation in the PIG-A gene, whose product is required for an early step in GPI anchor biosynthesis. We show that in two patients, two PNH clones with different mutations co-exist, and must therefore have arisen independently. This finding supports the concept that PNH develops under the pressures of a positive selection mechanism whereby GPI-anchor-deficient haemopoietic cells have a survival advantage.

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