Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family
نویسندگان
چکیده
منابع مشابه
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: Novel variants and genotype-phenotype correlations
PURPOSE This study aimed to investigate the role of CYP1B1 mutations in primary congenital glaucoma (PCG) in Pakistani patients. METHODS After consent was received, 20 families with at least more than one member affected with primary congenital glaucoma were enrolled in the study. The disease was confirmed with standard ophthalmological investigations. Genomic DNA was extracted from whole blo...
متن کاملMutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
PURPOSE The human Cytochrome P450 gene CYP1B1 has been implicated in primary congenital glaucoma worldwide. The aim of this study was to understand the role of CYP1B1 mutations in causing primary congenital glaucoma in Indian populations. METHODS The study included 64 new and unrelated cases of primary congenital glaucoma from different ethnic groups of India. Direct sequencing screened the c...
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 کاملMutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
PURPOSE Mutations in Cytochrome P450 (CYP1B1) are a predominant cause of congenital glaucoma. This study was planned with the aim to identify the mutation profile of CYP1B1 in North Indian primary congenital glaucoma (PCG) patients. METHODS After ethical clearance, 50 congenital glaucoma patients and 50 ethnically matched controls were recruited in this study. Genomic DNA was isolated from th...
متن کاملMutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma
PURPOSE To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG). METHODS Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directi...
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ژورنال
عنوان ژورنال: Canadian Journal of Ophthalmology
سال: 2018
ISSN: 0008-4182
DOI: 10.1016/j.jcjo.2017.08.019