| VMD2基因三个新的点突变与散发性Best病的关系
侯乒 陈伟民 阎亦农 彭智培
【摘要】 目的 对三个散发性Best病患者VMD2基因进行突变筛查，分析基因型与表现型之间的相互关系，为建立基因诊断的方法提供理论依据。 方法 采用聚合酶链反应（PCR）和DNA直接测序方法对三个散发性Best病患者的VMD2基因编码区和启动子序列进行筛查，并与同时采用相同方法结合构象敏感性凝胶电泳(CSGE)对100个正常对照者的VMD2基因筛查结果进行比较。 结果 三个散发性Best病患者的VMD2基因分别出现431G>A （Ser144Asn）, 763C>T （Arg255Trp）, 889C>A （Pro297Thr）。在正常对照者中没有发现上述突变。 结论 三个散发性Best病患者VMD2表现型与基因型密切相关，VMD2基因突变是三个散发性Best病患者。VMD2基因突变筛查可用于Best病的诊断和遗传咨询。
关键词：黄斑变性 Best病 基因突变
Analysis of the mutation of VMD2 gene in a family with Best macular dystrophy HOU Ping, CHAN Wai-man，et al. Joint Shantou International Eye Center, Shantou 515000, China
Corresponding Author: Hou Ping , Email:hou_33@163.com
【Abstract】 PURPOSE: To report three novel VMD2 gene mutations in sporadic patients with Best disease, and to analyze the genotype and phenotype correlations. PATIENTS AND METHODS: Mutational analysis for VMD2 was performed by direct sequencing in three Chinese patients with Best disease. Clinical examination included visual acuity, electro-oculography (EOG), and fundus examination. RESULTS: Ser144Asn, Arg255Trp and Pro297Thr mutations of the VMD2 gene was found in the three isolated patients, . The boy had bilateral vitelliform cyst-like lesions in both eyes and showed a pathological Arden ratio of 1.0 on EOG. The mother had a normal fundus appearance with an Arden ratio of 1.0 on EOG. CONCLUSION: A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.
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