Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

PIGA-Gen

Das Gen kodiert ein Protein , welches für die Biosynthese der GPI-Anker erforderlich ist. GPI-Anker sind Glycolipide, die für die auf der Oberfläche von Blutzellen die Interaktionen steuern. Mutationen begünstigen die Entwicklung der paroxysmalen nächtlichen Hämoglobinurie. Trunkierende Mutation können auch x-chromosomalen Entwicklungsstörungen hervorrufen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Paroxysmale nächtliche Hämoglobinurie
PIGA

Referenzen:

1.

Nafa K et al. (1998) The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.

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2.

Araten DJ et al. (1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.

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3.

Keller P et al. (1999) X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation.

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4.

Ueda E et al. (1992) Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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5.

Hirose S et al. (1992) Derivation and characterization of glycoinositol-phospholipid anchor-defective human K562 cell clones.

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6.

Hu R et al. (2005) PIG-A mutations in normal hematopoiesis.

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7.

Brodsky RA et al. (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.

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8.

Stevens VL et al. (1991) Defective glycosyl phosphatidylinositol biosynthesis in extracts of three Thy-1 negative lymphoma cell mutants.

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9.

Sugiyama E et al. (1991) Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the Thy-1 expression mutants.

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10.

Sauer B et al. (1988) Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1.

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11.

Nagarajan S et al. (1995) Identification of a PIG-A related processed gene on chromosome 12.

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12.

Miyata T et al. (1993) The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.

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13.

Kawagoe K et al. (1994) Molecular cloning of murine pig-a, a gene for GPI-anchor biosynthesis, and demonstration of interspecies conservation of its structure, function, and genetic locus.

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14.

Ware RE et al. (1994) Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

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15.

Iida Y et al. (1994) Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.

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16.

Ware RE et al. (1994) Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.

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17.

Miyata T et al. (1994) Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria.

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18.

Bessler M et al. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

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19.

Takahashi M et al. (1993) Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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20.

Takeda J et al. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

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21.

Nafa K et al. (1995) Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type.

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22.

Nagarajan S et al. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia.

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23.

Savoia A et al. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.

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24.

Watanabe R et al. (1996) PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum.

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25.

Luzzatto L et al. (1997) Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?

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26.

Maugard C et al. (1997) Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.

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27.

Brodsky RA et al. (1997) Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.

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28.

Watanabe R et al. (1998) The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

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29.

Ogata T et al. (1998) Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

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30.

Nafa K et al. (1998) New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria.

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