【etrnya】評論

Paroxysmal nocturnal haemoglobinuria (PNH), an acquired clonal blood disorder, is caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins due to a defect in a specific step of GPI-anchor synthesis. The cDNA of the X-linked gene, PIG-A, which encodes a protein required for this step has recently been isolated.

【etrnya】評論

陣發性夜間血紅素血症為慢性溶血性貧血之一，紅血球因細胞膜的缺損而提高對於補體系統之感受性。而細胞膜的缺損不僅表現於紅血球上，血小板及顆粒球也有相同情形。該疾病為後天骨髓幹細胞中的X性染色體的PIGA基因(phosphatidylinositol glycan class A)上發生突變，其可能原因為轉譯區的核苷酸有插入型或刪除型的突變，導致該基因所轉譯的GPI蛋白(glycosyl phosphatidylinositol )有所缺損。此突變非遺傳性，且發生於造血幹細胞，使得紅血球及白血球皆受影響。GPI蛋白為錨蛋白(anchor protein)，若缺損將影響細胞膜上GPI連結蛋白(GPI-linked protein)的流失，進而使得細胞膜對於補體的感受性增加。其中，細胞膜上重要的蛋白衰變加速因子(decay a...

【橘子捲】評論

早期用Ham's test，目前用流式細胞儀。