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Analysis of the gene mutation of vitelline macular dystrophy in a family with Best disease
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
- Issue:
- 2
- DOI:
- 10.3760/j.issn:1005-1015.2006.02.005
- Key Word:
- 黄斑变性;Best病;DNA突变分析
Abstract： 目的观察Best病家系卵黄样黄斑营养不良基因(VMD2)基因型与表现型之间的相互关系,为建立Best病基因诊断方法提供理论依据.方法采用聚合酶链反应(PCR)和DNA直接测序法对一个Best病家系10个成员的VMD2基因编码区和启动子序列进行突变筛查,并与同时采用相同方法结合构像敏感性凝胶电泳(CSGE)对100个正常对照者的VMD2基因筛查结果进行比较.结果Best病家系10个成员中,9人VMD2基因外显子2第223位碱基C-T颠换,其中6人通过眼底和眼电生理检查证实为Best病患者,2人为该突变的纯合子;另外有3个年轻成员虽然携带VMD2基因突变,临床上仅表现为眼电图的异常.在正常对照者中没有发现上述突变.结论Best病家系中VMD2表现型与基因型密切相关,VMD2基因突变是该家系的致病原因.VMD2基因突变筛查可用于Best病的诊断和遗传咨询.
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