Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

CYP1B1-Gen

Das CYP1B1-Gen kodiert ein Cytochrom P450 Enzym. Mutationen sind für autosomal rezessive Augenerkrankungen wie die Peters-Anomalie und das Glaukom 3A verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Weitwinkelglaukom 3A
CYP1B1

Referenzen:

1.

Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

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2.

Stoilov I et al. (1998) Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

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3.

Tang YM et al. (1996) Isolation and characterization of the human cytochrome P450 CYP1B1 gene.

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4.

Sutter TR et al. (1994) Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.

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5.

Schwartzman ML et al. (1987) 12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea.

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6.

Chavarria-Soley G et al. (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

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7.

Tsuchiya Y et al. (2006) MicroRNA regulates the expression of human cytochrome P450 1B1.

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8.

Ming JE et al. (2002) Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

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9.

Vincent A et al. (2001) Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

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10.

Hanna IH et al. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity.

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11.

Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

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12.

Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

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13.

Belmouden A et al. (2002) A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.

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14.

Bejjani BA et al. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

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15.

Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

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16.

Bejjani BA et al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

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17.

Stoilov I et al. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.

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18.

Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.

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19.

Orphanet article

Orphanet ID 120977 external link
20.

NCBI article

NCBI 1545 external link
21.

OMIM.ORG article

Omim 601771 external link
Update: 14. August 2020
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