Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

CD151-Antigen (Raph-Blutgruppe)

Das vom CD151-gen kodierte Protein ist eine Membranprotein mit 4 transmembranösen Domänen. Mutationen sind für die autosomal rezessive Erkrankung Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit verantwortlich, die sich teilweise schwer vom Alport-Syndrom abgrenzen lässt

Diagnostik:

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

Krankheiten:

Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
CD151

Referenzen:

1.

Sterk LM et al. (2000) The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes.

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2.

Whittock NV et al. (2001) Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.

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3.

Wright MD et al. (2004) Characterization of mice lacking the tetraspanin superfamily member CD151.

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4.

Lau LM et al. (2004) The tetraspanin superfamily member CD151 regulates outside-in integrin alphaIIbbeta3 signaling and platelet function.

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5.

Karamatic Crew V et al. (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

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6.

Karamatic Crew V et al. (2008) Two MER2-negative individuals with the same novel CD151 mutation and evidence for clinical significance of anti-MER2.

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7.

Ashman LK et al. (1991) The murine monoclonal antibody, 14A2.H1, identifies a novel platelet surface antigen.

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8.

Bill J et al. (1987) Molecular cloning of MER-2, a human chromosome-11-encoded red blood cell antigen, using linkage of cotransfected markers.

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9.

Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.

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10.

Daniels GL et al. (1987) MER2: a red cell polymorphism defined by monoclonal antibodies.

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11.

Fitter S et al. (1995) Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3.

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12.

Hasegawa H et al. (1996) SFA-1, a novel cellular gene induced by human T-cell leukemia virus type 1, is a member of the transmembrane 4 superfamily.

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13.

Hasegawa H et al. (1997) Assignment of SFA-1 (PETA-3), a member of the transmembrane 4 superfamily, to human chromosome 11p15.5 by fluorescence in situ hybridization.

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