Investigation of CYP1B1 gene involvement in primary congenital glaucoma in Iraqi children
نویسندگان
چکیده
منابع مشابه
CYP1B1-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 کاملInvestigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
PURPOSE This study was conducted to investigate the mutation spectrum of the cytochrome P450 gene (CYP1B1) in Chinese patients with primary congenital glaucoma (PCG). METHODS The coding regions of CYP1B1 from 41 Chinese PCG patients were analyzed using polymerase chain reaction (PCR) and heteroduplex analysis-single strand conformation polymorphism (HA-SSCP) followed by subsequent cloning and...
متن کاملCYP1B1 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 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 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: Middle East African Journal of Ophthalmology
سال: 2019
ISSN: 0974-9233
DOI: 10.4103/meajo.meajo_116_19