Chen Jun, Cai Su-ping, Yu Wenhan, Yan Naihong, Tang Li, Chen Xiaoming, Liu Xuyang
Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.
Mol Vis. 2011;17:1431-5. Epub 2011 May 31.
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.
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.
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.
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.
在中国一个原发性开角型青光眼家系中分析两个候选基因，即小梁网诱导型糖皮质激素反应基因（MYOC/TIGR）和人二噁英诱导型细胞色素P450基因（CYP1B1）。
在一个包含14名成员的三代家系中，其中4人患有原发性开角型青光眼，1人为青光眼疑似患者，其余均无症状。该家系所有成员均接受了全面的眼科检查。通过聚合酶链反应扩增MYOC和CYP1B1的外显子，进行测序，并与参考数据库进行比较。
所有患者均发现眼压升高和视野受损。在4名患者和疑似患者中鉴定出1个位于第3外显子的MYOC杂合突变G367R，但在其他家庭成员中未发现。同时，在MYOC和CYP1B1基因中发现了4个单核苷酸多态性。
尽管MYOC基因的G367R突变以常染色体显性遗传形式导致原发性开角型青光眼，在其他一些种族中已有报道，但在中国家系中首次发现。
