Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hochaffiner Immunglobulin-epsilon-Rezeptor Untereinheit beta

Das MS4A2-Gen kodiert einen Rezeptor für das Immunglobulin E und ist damit an der Regulation von allergischen Reaktionen beteiligt. Mutationen sind für autosomal dominante Atopie-Neigung verantwortlich.

Diagnostik:

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

Krankheiten:

Atopie
MS4A2

Referenzen:

1.

Küster H et. al. (1992) The gene and cDNA for the human high affinity immunoglobulin E receptor beta chain and expression of the complete human receptor.

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2.

Hupp K et. al. (1989) Gene mapping of the three subunits of the high affinity FcR for IgE to mouse chromosomes 1 and 19.

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3.

Hizawa N et. al. (1995) Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects.

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4.

Shirakawa T et. al. (1994) Association between atopy and variants of the beta subunit of the high-affinity immunoglobulin E receptor.

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5.

Sandford AJ et. al. (1993) Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q.

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6.

Szepetowski P et. al. (1994) FCER1B, a candidate gene for atopy, is located in 11q13 between CD20 and TCN1.

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7.

Hill MR et. al. (1996) A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness.

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8.

Shirakawa T et. al. (1996) Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population.

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9.

Fölster-Holst R et. al. (1998) Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families.

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10.

Nagata H et. al. (2001) Association between nasal allergy and a coding variant of the Fc epsilon RI beta gene Glu237Gly in a Japanese population.

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11.

Donnadieu E et. al. (2003) Competing functions encoded in the allergy-associated F©epsilonRIbeta gene.

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12.

Traherne JA et. al. (2003) LD mapping of maternally and non-maternally derived alleles and atopy in FcepsilonRI-beta.

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13.

Cruse G et. al. (2010) A novel FcεRIβ-chain truncation regulates human mast cell proliferation and survival.

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14.

Cruse G et. al. (2013) A truncated splice-variant of the FcεRIβ receptor subunit is critical for microtubule formation and degranulation in mast cells.

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Update: 26. September 2018

 

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