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- Title
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.
- Authors
Fuse, Nobuo; Miyazawa, Akiko; Takahashi, Kana; Noro, Michiru; Nakazawa, Toru; Nishida, Kohji
- Abstract
The article discusses a clinical study which determined the mutation spectrum and role of CYP1B1 gene in Japanese patients with primary congenital glaucoma (PCG) or juvenile open-angle glaucoma (JOAG). History of the patients showed that they developed high intraocular pressure (IOP) before the age of 35. Results of polymerase chain reaction, mutational screening and sequencing of genomic DNA extracted from the leukocytes of unrelated patients revealed four mutations in four patients with PCG. The CYP1B1 gene of the JOAG patients showed no mutations.
- Subjects
GENES; CONGENITAL glaucoma; INTRAOCULAR pressure; POLYMERASE chain reaction; EYE diseases; JAPANESE people
- Publication
Japanese Journal of Ophthalmology, 2010, Vol 54, Issue 1, p1
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-009-0769-1