Limits...
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.

Chen J, Cai SP, Yu W, Yan N, Tang L, Chen X, Liu X - Mol. Vis. (2011)

Bottom Line: Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.Elevated intraocular pressure and impaired visual field were found in all patients.Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.

ABSTRACT

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. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results: Elevated intraocular pressure and impaired visual field were found in all patients. One MYOC heterozygous mutation G367R, in exon 3 was identified in four patients and the suspect, but not in the rest of the family members. Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

Conclusions: Although the G367R mutation of MYOC, which causes primary open-angle glaucoma in the form of autosomal dominant inheritance, has been reported in some other ethnicities, it was found in Chinese pedigree for the first time.

Show MeSH

Related in: MedlinePlus

Pedigree for the Chinese POAG family. The proband was II-3.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3108900&req=5

f1: Pedigree for the Chinese POAG family. The proband was II-3.

Mentions: This three-generation pedigree with POAG (Figure 1) was recruited from the out-patient department of Ophthalmology at West China Hospital (Sichuan University, Chengdu, P. R. China). All members of the family underwent the complete ophthalmologic examinations including slit-lamp biomicroscopy, gonioscopic examination, fundoscopic examination, IOP measurement (Canon TX-F Non-contact tonometer; Canon Inc., Tokyo, Japan), and visual field test (Octopus 900; HAAG-STREIT International, Berne, Swiss). Diagnostic criteria for POAG included open anterior chamber angle, elevated IOP (≥22 mmHg), glaucomatous visual field defects and characteristic optic disc damage.


Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.

Chen J, Cai SP, Yu W, Yan N, Tang L, Chen X, Liu X - Mol. Vis. (2011)

Pedigree for the Chinese POAG family. The proband was II-3.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108900&req=5

f1: Pedigree for the Chinese POAG family. The proband was II-3.
Mentions: This three-generation pedigree with POAG (Figure 1) was recruited from the out-patient department of Ophthalmology at West China Hospital (Sichuan University, Chengdu, P. R. China). All members of the family underwent the complete ophthalmologic examinations including slit-lamp biomicroscopy, gonioscopic examination, fundoscopic examination, IOP measurement (Canon TX-F Non-contact tonometer; Canon Inc., Tokyo, Japan), and visual field test (Octopus 900; HAAG-STREIT International, Berne, Swiss). Diagnostic criteria for POAG included open anterior chamber angle, elevated IOP (≥22 mmHg), glaucomatous visual field defects and characteristic optic disc damage.

Bottom Line: Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.Elevated intraocular pressure and impaired visual field were found in all patients.Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.

ABSTRACT

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. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results: Elevated intraocular pressure and impaired visual field were found in all patients. One MYOC heterozygous mutation G367R, in exon 3 was identified in four patients and the suspect, but not in the rest of the family members. Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

Conclusions: Although the G367R mutation of MYOC, which causes primary open-angle glaucoma in the form of autosomal dominant inheritance, has been reported in some other ethnicities, it was found in Chinese pedigree for the first time.

Show MeSH
Related in: MedlinePlus