Bessler M, Mason P J, Hillmen P, Luzzatto L
Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London.
Br J Haematol. 1994 Aug;87(4):863-6. doi: 10.1111/j.1365-2141.1994.tb06754.x.
Paroxysmal nocturnal haemoglobinuria (PNH) is due to the absence or marked reduction of glycan phosphatidylinositol (GPI)-anchored proteins on the surface of blood cells. Affected patients may have a population of red blood cells that are completely deficient (PNH III) or partially deficient (PNH II) in these proteins, or they may have both. PNH III has recently been shown to be due, in all cases examined, to a somatic mutation in the PIG-A gene, whose product is required for an early step in GPI anchor synthesis. We now show that two patients with PNH II cells also have somatic mutations of the same gene: these produce a partial rather than a total loss of PIG-A function.
阵发性睡眠性血红蛋白尿（PNH）是由于血细胞表面糖基磷脂酰肌醇（GPI）锚定蛋白缺失或显著减少所致。受影响的患者可能有一群红细胞在这些蛋白上完全缺乏（PNH III型）或部分缺乏（PNH II型），或者两者都有。最近研究表明，在所有检测的病例中，PNH III型是由于PIG - A基因的体细胞突变，该基因产物是GPI锚合成早期步骤所必需的。我们现在发现，两名患有PNH II型细胞的患者也有同一基因的体细胞突变：这些突变导致PIG - A功能部分而非完全丧失。
