Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma
نویسندگان
چکیده
منابع مشابه
Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients
In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...
متن کاملSer341Pro MYOC gene mutation in a family with primary open-angle glaucoma
Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open-angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was extracted from the venous blood of 12 family members, and of 100 healthy individuals. The mode of ...
متن کاملIdentification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma
PURPOSE To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG). METHODS One family was examined clinically and a follow-up took place 5 years later. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed with three microsatellite markers around the MYOC...
متن کاملMYOC and FOXC1 gene analysis in primary congenital glaucoma
PURPOSE To screen the myocilin (MYOC) and forkhead box protein C1 (FOXC1) genes for sequence variations in primary congenital glaucoma (PCG). METHODS Seventy five PCG patients were screened for MYOC variations and 54 cases (negative or heterozygous for cytochrome P4501B1 mutations) for FOXC1 mutations by polymerase chain reaction (PCR) and DNA sequencing. RESULTS Five single nucleotide poly...
متن کاملSequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma
PURPOSE To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma. METHODS In a three-generation family containing 14 members, four of them were patients with primary open-angle glaucoma, one was a glaucoma suspect, and the rest were asymptomatic. A...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2006
ISSN: 0366-6999
DOI: 10.1097/00029330-200607020-00015