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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice.
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2. |
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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3. |
Bicknell DC et al. (1994) Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.
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4. |
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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5. |
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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6. |
Cox DR et al. (1982) Assignment of the gene for beta 2-microglobulin (B2m) to mouse chromosome 2.
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7. |
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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8. |
Robinson PJ et al. (1981) Two allelic forms of mouse beta 2-microglobulin.
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9. |
Michaelson J et al. (1980) Genetic polymorphism of murine beta 2-microglobulin detected biochemically.
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10. |
Goodfellow P et al. (1975) Linkage relationships of the HL-A system and beta 2 microglobulin.
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11. |
Smith M et al. (1975) Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.
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12. |
Goodfellow PN et al. (1975) The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region.
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13. |
Cunningham BA et al. (1973) The complete amino acid sequence of beta 2-microglobulin.
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14. |
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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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. |
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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17. |
Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
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18. |
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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19. |
None (1969) Disorders of immunoglobulin metabolism.
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20. |
Huh GS et al. (2000) Functional requirement for class I MHC in CNS development and plasticity.
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21. |
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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22. |
None (1974) Immunology: Role of beta2-Microglobulin.
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23. |
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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24. |
Zingraff JJ et al. (1990) Beta 2-microglobulin amyloidosis in chronic renal failure.
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25. |
Connors LH et al. (1985) In vitro formation of amyloid fibrils from intact beta 2-microglobulin.
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26. |
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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27. |
Güssow D et al. (1987) The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit.
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28. |
Gorevic PD et al. (1986) Polymerization of intact beta 2-microglobulin in tissue causes amyloidosis in patients on chronic hemodialysis.
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29. |
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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30. |
Gorevic PD et al. (1985) Beta-2 microglobulin is an amyloidogenic protein in man.
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31. |
NCBI article
NCBI 567
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32. |
OMIM.ORG article
Omim 109700
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33. |
Orphanet article
Orphanet ID 317771
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34. |
Wikipedia Artikel
Wikipedia DE (Β2-Mikroglobulin)
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Update: 14. August 2020