[Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the deficiency of glycosylphosphatidylinositol-(GPI-)-anchored surface molecules on blood cells. The biochemical basis of this deficiency is the lack of the first GPI biosynthesis intermediate GlcNAc-PI in the deficient cells corresponding to that in Thy-1- mouse lymphoma mutants of the class A. Recently, the responsible gene (PIG-A gene) has been cloned. Here, PIG-A transcripts in T-, NK- and EBV-transformed B cell lines of different PNH patients have been analyzed. In contrast to the uniform biochemical defect, these molecular analyses reveal heterogenous mutations of the PIG-A gene in different PNH patients.

• Authors: T Ostendorf, J Schubert, R E Schmidt
• Journal: Immunitat und Infektion (Immun Infekt) Vol. 22 Issue 4 Pg. 154-5 (Aug 1994) Germany
• Vernacular Title: Mutationen im PIG-A-Gen führen zur GPI-Defizienz bei der paroxysmalen nächtlichen Hämoglobinurie.
• PMID: 7927481 (Publication Type: English Abstract, Journal Article)

Chemical References

• Glycosylphosphatidylinositols
• Membrane Proteins
• RNA, Messenger
• phosphatidylinositol glycan-class A protein

Topics

• Glycosylphosphatidylinositols (metabolism)
• Hemoglobinuria, Paroxysmal (genetics)
• Humans
• Membrane Proteins (genetics)
• Mutation
• RNA, Messenger (genetics)