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

[摘要] Purpose: To analyze two candidate genes,trabecular meshwork inducible glucocorticoid response (MYOC/TIGR)and human dioxin-inducible cytochrome P450 (CYP1B1), in aChinese pedigree of primary open-angle glaucoma. Methods: In a three-generation familycontaining 14 members, four of them were patients with primaryopen-angle glaucoma, one was a glaucoma suspect, and the rest wereasymptomatic. All members of the family underwent completeophthalmologic examinations. Exons of MYOC and CYP1B1were amplified by polymerase chain reaction, sequenced, and comparedwith a reference database. Results: Elevated intraocular pressureand impaired visual field were found in all patients. One MYOCheterozygous mutation G367R, in exon 3 was identified in four patientsand the suspect, but not in the rest of the family members. Meanwhile,four single nucleotide polymorphisms in MYOC and CYP1B1genes were found. Conclusions: Although the G367R mutationof MYOC, which causes primary open-angle glaucoma in the formof autosomal dominant inheritance, has been reported in some otherethnicities, it was found in Chinese pedigree for the first time.

[学科分类] 生物化学/生物物理