Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Beta-2-Mikroglobulin

Das B2M-Gen kodiert das beta-2-Mikroglobulin ein Serumprotein, welches mit den MHC Klasse 1 assoziiert ist. Mutationen führen zur autosomal rezessiven Erkrankung der hyperkatabolen Hypoproteinämie oder zur autosomal dominanten Erkrankung der viszeralen Amyloidose.

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:

Hyperkatabole Hypoproteinämie
B2M
Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ

Referenzen:

1.

Huh GS et al. (2000) Functional requirement for class I MHC in CNS development and plasticity.

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2.

Rosa F et al. (1983) The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon.

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3.

Wani MA et al. (2006) Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.

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4.

Marx JI et al. (1974) Immunology: Role of beta2-Microglobulin.

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5.

D'Urso CM et al. (1991) Lack of HLA class I antigen expression by cultured melanoma cells FO-1 due to a defect in B2m gene expression.

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6.

Zingraff JJ et al. (1990) Beta 2-microglobulin amyloidosis in chronic renal failure.

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7.

Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

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8.

Connors LH et al. (1985) In vitro formation of amyloid fibrils from intact beta 2-microglobulin.

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9.

Casey TT et al. (1986) Tumoral amyloidosis of bone of beta 2-microglobulin origin in association with long-term hemodialysis: a new type of amyloid disease.

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10.

Güssow D et al. (1987) The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit.

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11.

Gorevic PD et al. (1986) Polymerization of intact beta 2-microglobulin in tissue causes amyloidosis in patients on chronic hemodialysis.

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12.

McClure J et al. (1986) Carpal tunnel syndrome caused by amyloid containing beta 2 microglobulin: a new amyloid and a complication of long term haemodialysis.

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13.

Gejyo F et al. (1985) A new form of amyloid protein associated with chronic hemodialysis was identified as beta 2-microglobulin.

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14.

Gorevic PD et al. (1985) Beta-2 microglobulin is an amyloidogenic protein in man.

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15.

Lindblom JB et al. (1974) Beta2-microglobulin on the cell surface. Relationship to HL-A antigens and the mixed leucocyte culture reaction.

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16.

Berggård I et al. (1968) Isolation and properties of a low molecular weight beta-2-globulin occurring in human biological fluids.

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17.

Waldmann TA et al. (1969) Disorders of immunoglobulin metabolism.

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18.

Cunningham BA et al. (1973) The complete amino acid sequence of beta 2-microglobulin.

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19.

Goodfellow PN et al. (1975) The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region.

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20.

Smith M et al. (1975) Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.

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21.

Goodfellow P et al. (1975) Linkage relationships of the HL-A system and beta 2 microglobulin.

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22.

Michaelson J et al. (1980) Genetic polymorphism of murine beta 2-microglobulin detected biochemically.

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23.

Robinson PJ et al. (1981) Two allelic forms of mouse beta 2-microglobulin.

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24.

Suggs SV et al. (1981) Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta 2-microglobulin.

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25.

Cox DR et al. (1982) Assignment of the gene for beta 2-microglobulin (B2m) to mouse chromosome 2.

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26.

Margulies DH et al. (1983) Linkage of beta 2-microglobulin and ly-m11 by molecular cloning and DNA-mediated gene transfer.

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27.

Arce-Gomez B et al. (1978) The genetic control of HLA-A and B antigens in somatic cell hybrids: requirement for beta2 microglobulin.

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28.

de Sousa M et. al. (1994) Iron overload in beta 2-microglobulin-deficient mice.

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29.

Bicknell DC et al. (1994) Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.

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30.

Oliver N et al. (1978) Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta 2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier.

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