Correlations of Genotype with Phenotype in Indian Patients with Primary Congenital Glaucoma
نویسندگان
چکیده
منابع مشابه
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.
PURPOSE To establish the genotype-phenotype correlations of various CYP1B1 (human cytochrome P450) mutations in patients in India with primary congenital glaucoma (PCG). METHODS The study cohort comprised 146 patients with PCG from 138 pedigrees. Patients were analyzed for six distinct CYP1B1 mutations by sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-R...
متن کاملGenotype and phenotype correlations in congenital glaucoma.
PURPOSE To determine whether there is a correlation among mutations in the cytochrome P450 1B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. METHODS Direct DNA sequencing was utilized to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens of the anter...
متن کاملMutational 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...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2004
ISSN: 1552-5783
DOI: 10.1167/iovs.03-0404