MYOC 的单个核苷酸多型性影响了主要开的角度绿内障的严厉

• 作者: Hong-Bo Cheng Ning Fan Su-Ping Cai Wen-Han Yu Xiao-Hong Li Xiao-Min Zhou Xu-Yang Liu Yan Yin Yun Wang
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: primary open angle GLAUCOMA MYOCILIN MUTATION D384N T353I
• 年，卷（期）: 2013,（3）
• 页码范围: 264-268
• 页数: 5页
• 分类号: R775

摘要

AIM: To detect the mutations in two candidate genes, myocilin (MYOC ) and cytochrome P450 1B1 (CYP1B1 ), in a Chinese family with primary open angle glaucoma (POAG). ·METHODS:Thefamilywascomposedofthreemembers, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing. ·RESULTS: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile -onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G 】A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C】T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family. ·CONCLUSION: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile -onset POAG patient whopresented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.