|Title:||Pig-a Gene Mutations in Four Taiwanese Patients with Paroxysmal Nocturnal Haemoglobinuria Following Aplastic Anaemia||Authors:||LIN, LIANG-IN
CHEN, YAO- CHANG
|Keywords:||PAROXYSMAL NOCTURNAL HAEMOGLOBINURIA,APLASTIC ANAEMIA,;GLYCOSYLPHOSPHATIDYLINOSITOL(GPI)ANCHOR,PIG-A GENE||Issue Date:||1997||Journal Volume:||v.97||Journal Issue:||n.2||Start page/Pages:||286-292||Source:||BRITISH JOURNAL OF HAEMATOLOGY||Abstract:||
Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by deficient biosynthesis of the glycosyl phosphatidylinositol (GPI) anchor in haemopoietic stem cells. PIG-A, an X -linked gene that participates in the first step of GPI-anchor synthesis, is responsible for PNH. Various abnormalities of the PIG-A gene have been demonstrated in all patients with PNH so far examined. In this study, we characterized the somatic mutations in PIG-A gene in four Taiwanese patients with PNH. We identified five novel mutations in the PIG-A gene, three single nucleotide substitution mutations（-342, C→G, codon 335, GGT → AGT and codon 405, GCT→GTT）and two frameshift mutations（codon 22, GGA→G-A and codon 356, TGT→TGTT）in the PIG-A gene. The -342 mutation was judged to be a polymorphism. Furthermore, three patients had had clinicopathologic evidence suggesting aplastic anaemia (AA) before the development of PNH. One of these was found to have thrombocytopenia during follow-up. We suggest that the somatic PIG-A gene mutations highlight a subgroup of AA having a pathogenetic link with PNH.
|Appears in Collections:||醫學檢驗暨生物技術學系|
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