一个患有最佳型卵黄样黄斑营养不良的中国家系中VMD2基因的新突变。
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
作者信息
Li Yang, Wang Guanglu, Dong Bing, Sun Xiuying, Turner Matthew J, Kamaya Shin, Zhang Kang
机构信息
Beijing Institute of Ophthalmology, China.
出版信息
Ann Acad Med Singap. 2006 Jun;35(6):408-10.
INTRODUCTION
In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.
MATERIALS AND METHODS
Ophthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.
RESULTS
Sequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.
CONCLUSIONS
A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.
引言
在本文中，我们报道了一个患有Best卵黄样黄斑营养不良的中国家系中的一种新型VMD2基因突变。
材料与方法
对该家系的2名成员进行了眼科检查和光学相干断层扫描（OCT）。通过单链构象多态性（SSCP）和对与该基因11个外显子对应的PCR扩增DNA片段进行直接测序来进行突变筛查。
结果
序列分析鉴定出一个先前未报道的C到G的变化，预测有Phe-113-Leu替代。先证者及其妹妹都携带这种新型突变。两人均有双侧卵黄样病变。
结论
在中国患有Best卵黄样黄斑营养不良的患者中发现了VMD2基因的一种新型突变（C427G）。
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