Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
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:

Weitwinkelglaukom 3A
CYP1B1

Referenzen:

1.

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

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2.

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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3.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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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12.

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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13.

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

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14.

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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15.

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

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16.

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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17.

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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18.

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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