Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Integrin alpha-2

Das ITGA2-Gen kodiert einen transmembranösen Rezeptor für Kollagen, der für die Stabilisierung der extrazellulären Matrix verantwortlich ist. Mutationen führen zu autosomal dominanten thrombozytären Störungen der Blutgerinnung.

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:

Thrombozytäres Blutungsübel Typ 9
ITGA2
Glycoprotein 1a-Mangel
ITGA2

Referenzen:

1.

Santoso S et. al. (1993) The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2).

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2.

Jaspers M et. al. (1991) Localization of the gene encoding the alpha 2 subunit of the human VLA-2 receptor to chromosome 5q23-31.

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3.

Kaplan C et. al. (1991) HPA-5b (Br(a)) neonatal alloimmune thrombocytopenia: clinical and immunological analysis of 39 cases.

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4.

Bettaieb A et. al. (1991) Brb, a platelet alloantigen involved in neonatal alloimmune thrombocytopenia.

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5.

Kiefel V et. al. (1991) Neonatal alloimmune thrombocytopenia due to anti-Brb (HPA-5a). Report of three cases in two families.

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6.

Takada Y et. al. (1989) The primary structure of the VLA-2/collagen receptor alpha 2 subunit (platelet GPIa): homology to other integrins and the presence of a possible collagen-binding domain.

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7.

Mueller-Eckhardt C et. al. (1989) 348 cases of suspected neonatal alloimmune thrombocytopenia.

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8.

Woods VL et. al. (1989) Antigenic polymorphism of human very late activation protein-2 (platelet glycoprotein Ia-IIa). Platelet alloantigen Hca.

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9.

Nieuwenhuis HK et. al. () Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia.

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10.

Kiefel V et. al. (1988) A new platelet-specific alloantigen Bra. Report of 4 cases with neonatal alloimmune thrombocytopenia.

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11.

Kunicki TJ et. al. (1997) Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence.

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12.

Kritzik M et. al. (1998) Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density.

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13.

Santoso S et. al. (1999) Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients.

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14.

Carlsson LE et. al. (1999) The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients.

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15.

Santoso S et. al. (1999) A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.

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16.

von Beckerath N et. al. (2000) Glycoprotein Ia gene C807T polymorphism and risk for major adverse cardiac events within the first 30 days after coronary artery stenting.

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17.

Inoue O et. al. (2003) Integrin alpha2beta1 mediates outside-in regulation of platelet spreading on collagen through activation of Src kinases and PLCgamma2.

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18.

Noris P et. al. (2006) Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

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