摘要
目的探讨徐州地区一原发性开角型青光眼（POAG）家系的MYOC基因的突变位点。方法对一四代POAG家系进行全面临床检查，对家系成员应用聚合酶链反应（PCR）扩增MYOC基因所有外显子及相邻内含子，对其产物进行直接测序。对照组为门诊随机选取的30名健康者。结果家系的遗传方式符合常染色体显性遗传，确诊年龄为13～29岁。在所有患者中均发现MYOC第三外显子密码子由TAC变为TAA，对应的酪氨酸转为终止密码（Tyr360STOP）。无该突变的家系成员中无POAG患者，2例尚未发现明显青光眼体征的家系成员和对照组30名均未发现任何突变位点。结论Tyr360STOP是江苏地区这一原发性开角型青光眼家系的致病基因，突变的表型是发病年龄较轻的青少年性开角型青光眼（Juvenileonsetopenangleglaucoma，JOAG），具有较高的外显率。
Objective To determine the possible mutation in the MYOC gene underlying POAG in Jiangsu glaucoma family. Methods The members in a four generation POAG family were exam- ined by senior ophthalmologists. All coding sequences of the myocilin gene plus the flanking sites were amplified by polymerase chain reaction （PCR）. The control group was randomly selected from 30 healthy persons from outpatient using genomic DNA from all examined family members followed by sequencing of the PCR products. Results This family pedigree exhibited autosomal mode of in- heritance, the onset age ranged from 13 to 29 years. A disease-cansing missense mutation Tyr360STOP in the third exon of the myocilin gene was identified in all affected family members. None of the subjects without mutation had glaucoma. This mutation Tyr360STOP was not found in control group. Conclusions The myocilin sequence alteration Tyr360STOP is proved to be a dis- ease-cansing missense mutation. The mutation in this family is associated with a phenotype character- ized by younger-onset open angle glaucoma and associated with a high penetrance.
出处
《中国实用眼科杂志》
CSCD
北大核心
2013年第8期1068-1071,共4页
Chinese Journal of Practical Ophthalmology
基金
徐州市科技局项目（MY07c075）
