[Gene screening as the forewarning measure to predict glaucoma].
[Gene screening as the forewarning measure to predict glaucoma].
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DOI：
10.3760/cma.j.issn.0412-4081.2009.07.009
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发表时间：
2009-07
期刊：
影响因子：
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通讯作者：
Yan-tao Wei;Y. Zhuo;Yi-qing Li;Fang Chai;M. Lin;Y. Ling;J. Ge
中科院分区：
文献类型：
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作者：
Yan-tao Wei;Y. Zhuo;Yi-qing Li;Fang Chai;M. Lin;Y. Ling;J. Ge
目的探讨基因筛查在家族性开角型青光眼家系预警监测中的作用。方法对所有可供选择的家庭成员进行全面的眼科检查。从外周血中提取基因组DNA。扩增myocilin基因并使用直接测序筛选突变。所有家庭成员都被跟踪。结果在12名家系成员中，5名携带第3外显子C → T突变，导致脯氨酸→亮氨酸（Pro370Leu），其余7名未携带该突变。眼科检查未发现突变携带者的视盘、RNFL厚度和视野参数有任何异常。在随访期间，所有携带者均被诊断为开角型青光眼。视野缺损平均出现时间分别为21.6个月和14.4个月。结论遗传学诊断具有较高的特异性和敏感性，可用于家族性开角型青光眼家系的症状前诊断和预警。
OBJECTIVE To investigate the effect of gene screening on forewarning and monitoring of familial open-angle glaucoma pedigree. METHODS Comprehensive ophthalmic examinations were performed in all available family members. The genomic DNA was extracted from peripheral blood. The myocilin gene was amplified and screened for mutations using direct sequencing. All family members were followed up. RESULTS Among 12 family members, 5 individuals carry a C to T transition in exon 3 resulting in the substitution of proline to leucine (Pro370Leu), and the other 7 individuals did not carry this mutation. Ophthalmic examinations did not show any abnormality in the optic disc, the thickness of RNFL, and visual field parameters in mutation-carriers. During the follow-up, all carriers were diagnosed as open-angle glaucoma. The mean time of presentation of the defect of visual field was 21.6 months and 14.4 months after the changes in RNFL thickness. CONCLUSION Genetic diagnosis was proven to be a method with high specificity and sensitivity; and can be used for presymptom diagnosis and forewarning in familial open-angle glaucoma pedigree.