Qu Xiying, Zhou Xin, Zhou Keyuan, Xie Xiaobin, Tian Yanli
Center of Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan, People's Republic of China.
Mol Biol Rep. 2010 Jan;37(1):255-61. doi: 10.1007/s11033-009-9667-3. Epub 2009 Aug 18.
Myocilin (MYOC) gene is expressed in many ocular tissues, including the trabecular meshwork, a specialized eye tissue essential in regulating intraocular pressure. Many mutations in MYOC have been detected in primary open-angle glaucoma (POAG). We investigated whether MYOC mutations contributed to the susceptibility to POAG in a Chinese family. In a four-generation family affected with POAG, ocular examinations were performed on all members of the pedigree to determine their disease status, and 200 healthy matched controls were recruited. PCR-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to determine the mutations in MYOC. Biological software was used to analyze the corresponding proteins for missense mutations. The c.1084G>- was found, for the first time, in four of eight affected patients and in one of two patients with suspected POAG. The c.1006C>T mutation was found in two of eight patients and in one of 19 subjects who were asymptomatic. The frequencies of c.1084G>- and c.1006C>T were 12.82 and 7.69%, respectively, in patients but not in the controls. These data provide additional clues to the pathogenesis of POAG because no other mutation was detected in either group. Our results suggest that the MYOC c.1084G>- may contribute to a genetic predisposition to POAG.
肌纤蛋白（MYOC）基因在许多眼部组织中表达，包括小梁网，这是一种在调节眼压方面至关重要的特殊眼部组织。在原发性开角型青光眼（POAG）中已检测到MYOC的许多突变。我们调查了MYOC突变是否会导致一个中国家族患POAG的易感性。在一个患POAG的四代家族中，对家系中的所有成员进行了眼部检查以确定他们的疾病状态，并招募了200名健康匹配对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析和DNA测序来确定MYOC中的突变。使用生物软件分析错义突变的相应蛋白质。首次在8名患病患者中的4名以及2名疑似POAG患者中的1名中发现了c.1084G> - 。在8名患者中的2名以及19名无症状受试者中的1名中发现了c.1006C>T突变。c.1084G> - 和c.1006C>T在患者中的频率分别为12.82%和7.69%，而在对照组中未发现。由于两组中均未检测到其他突变，这些数据为POAG的发病机制提供了额外线索。我们的结果表明，MYOC c.1084G> - 可能导致POAG的遗传易感性。
