[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].
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发表时间：
2008-10
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通讯作者：
Xiaohua Dai;Shang-wu Nie;Tie Ke;Jian-ping Liu;Qing Wang;Mugen Liu
中科院分区：
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作者：
Xiaohua Dai;Shang-wu Nie;Tie Ke;Jian-ping Liu;Qing Wang;Mugen Liu
目的描述一个原发性闭角型青光眼（PACG）家系的临床和遗传学特征。方法采用连锁分析、DNA测序和单链构象多态性（SSCP）分析等方法对致病突变进行鉴定。结果所有患者均存在MYOC基因Arg46Stop突变和CYP1B1基因Leu432Val突变。在任何相同的中国对照个体中均未发现双基因变异。结论发现一个中国人PACG家系MYOC基因Arg46Stop和CYP1B1基因Leu432Val双基因突变。作者的研究表明MYOC和CYP1B1在PACG的发生中可能发挥作用，并支持PAOG和PACG可能在多种青光眼表型中具有共同起源的假设。
OBJECTIVE To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG). METHODS Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations. RESULTS The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals. CONCLUSION Author identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.