Utilizza questo identificativo per citare o creare un link a questo documento:
|Titolo:||Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients|
|Autori interni:||LUNARDI, Claudio|
|Data di pubblicazione:||1996|
|Abstract:||Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins resulting from a defect in one step of GPI-anchor biosynthesis. Recent analysis has shown that mutations at the PIG-A (phosphatidylinositoglycan-class A) gene are responsible for GPI-anchor deficiency in all PNH patients. In the current study, we describe three new mutations of the PIG-A gene in Italian patients with PNH. The analysis has been performed by RNA/single-strand conformation polymorphism using genomic DNA purified from nucleated peripheral blood cells. An abnormal pattern of migration of polymerase chain reaction amplified fragments containing exons 2 and 5 was observed. Sequencing analysis led to the identification of three mutations: a transversion C-to-A creating a stop codon (Y98X), an A insertion at position 460 (460insA), and a C deletion (1114delC). All the mutations cause a premature termination of the translation of the PIG-A protein.|
|Appare nelle tipologie:||01.01 Articolo in Rivista|
File in questo prodotto:
Non ci sono file associati a questo prodotto.
- PubMed Central loading...
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.