CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
نویسندگان
چکیده
منابع مشابه
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Primary congenital glaucoma (PCG) is an autosomal recessive disease, caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle. It manifests itself clinically during the neonatal or infantile period. The disease is characterised by high intraocular pressure (IOP), buphthalmos with corneal enlargement, and breaks in Descemet’s membrane. Two chromosomal locat...
متن کاملCYP1B1-mediated Pathobiology of Primary Congenital Glaucoma
CYP1B1 is a dioxin-inducible enzyme belonging to the cytochrome P450 superfamily. It has been observed to be important in a variety of developmental processes including in utero development of ocular structures. Owing to its role in the developmental biology of eye, its dysfunction can lead to ocular developmental defects. This has been found to be true and CYP1B1 mutations have been observed i...
متن کاملPhenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma.
AIM To investigate the phenotypes associated with cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma (PCG). METHODS 66 Japanese patients with PCG were screened for sequence mutations in the CYP1B1 gene using single strand conformation polymorphism analysis followed by automated DNA sequencing. 11 cases had a CYP1B1 mutation in both alleles (the mu...
متن کاملNovel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
PURPOSE To investigate CYP1B1 gene mutations in Japanese patients with primary congenital glaucoma (PCG). METHODS Sixty-five unrelated Japanese patients with PCG were screened by PCR-single-strand conformational polymorphism (SSCP) analysis followed by direct sequencing. No patients were offspring of consanguineous marriages, a common occurrence among patients in previous reports. PCG haploty...
متن کاملCLINICAL SCIENCE Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
Aim: To investigate the phenotypes associated with cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma (PCG). Methods: 66 Japanese patients with PCG were screened for sequence mutations in the CYP1B1 gene using single strand conformation polymorphism analysis followed by automated DNA sequencing. 11 cases had a CYP1B1 mutation in both alleles (the mu...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.1.e9