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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.

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Related in: MedlinePlus

MYOC mutation in the POAG family. A: Normal individuals with homozygous G (arrow). B: The double peak of guanine (black line) and adenine (green line; B, arrow) represents a heterozygous mutation at the codon of 367th amino acid residue (Gly367Arg).
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f3: MYOC mutation in the POAG family. A: Normal individuals with homozygous G (arrow). B: The double peak of guanine (black line) and adenine (green line; B, arrow) represents a heterozygous mutation at the codon of 367th amino acid residue (Gly367Arg).

Mentions: Sequence analysis of MYOC revealed a heterozygous mutation, c.1099G>A (G367R), in exon 3 in all patients and the suspected one but not in any of the asymptomatic members of the family. The G367R MYOC mutation was cosegregated with the disorder within the family (Figure 3). One single nucleotide polymorphism (SNP, g.23096344C>T) in exon 2 of MYOC was identified.


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)

MYOC mutation in the POAG family. A: Normal individuals with homozygous G (arrow). B: The double peak of guanine (black line) and adenine (green line; B, arrow) represents a heterozygous mutation at the codon of 367th amino acid residue (Gly367Arg).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f3: MYOC mutation in the POAG family. A: Normal individuals with homozygous G (arrow). B: The double peak of guanine (black line) and adenine (green line; B, arrow) represents a heterozygous mutation at the codon of 367th amino acid residue (Gly367Arg).
Mentions: Sequence analysis of MYOC revealed a heterozygous mutation, c.1099G>A (G367R), in exon 3 in all patients and the suspected one but not in any of the asymptomatic members of the family. The G367R MYOC mutation was cosegregated with the disorder within the family (Figure 3). One single nucleotide polymorphism (SNP, g.23096344C>T) in exon 2 of MYOC was identified.

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