https://scholars.lib.ntu.edu.tw/handle/123456789/146035
標題: | Pig-a Gene Mutations in Four Taiwanese Patients with Paroxysmal Nocturnal Haemoglobinuria Following Aplastic Anaemia | 作者: | LIN, LIANG-IN LIU, CHUN-HAO CHEN, YAO- CHANG SHEN, MING-CHING WANG, CHIU-HWA HUANG, YI-LING LIN, JEN-KUN |
關鍵字: | PAROXYSMAL NOCTURNAL HAEMOGLOBINURIA,APLASTIC ANAEMIA,;GLYCOSYLPHOSPHATIDYLINOSITOL(GPI)ANCHOR,PIG-A GENE | 公開日期: | 1997 | 卷: | v.97 | 期: | n.2 | 起(迄)頁: | 286-292 | 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 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. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/86174 |
顯示於: | 醫學檢驗暨生物技術學系 |
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