New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family

作者：Qu, Xiying; Zhou, Xin^*; Zhou, Keyuan; Xie, Xiaobin; Tian, Yanli

来源：Molecular Biology Reports, 2010, 37(1): 255-261.

DOI：10.1007/s11033-009-9667-3

• Primary open-angle glaucoma
• Myocilin
• Mutation

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.

• 出版日期2010-1
• 单位广东医科大学; 武汉大学