https://scholars.lib.ntu.edu.tw/handle/123456789/589403
標題: | PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia | 作者: | LIANG-IN LIN CHEN-HSUAN LIU YAO-CHANG CHEN MING-CHING SHEN CHING-HUA WANG Huang Y.-L. Lin J.-K. |
關鍵字: | aplastic anaemia | glycosylphosphatidylinositol (GPI) anchor | paroxysmal nocturnal haemoglobinuria | PIG-A gene | 公開日期: | 五月-1997 | 卷: | 97 | 期: | 2 | 來源出版物: | British journal of haematology | 摘要: | 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 previous clinicopathologic evidence which suggested 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/589403 | ISSN: | 0007-1048 | DOI: | 10.1046/j.1365-2141.1997.442690.x |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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