Li Yang, Wang Guanglu, Dong Bing, Sun Xiuying, Turner Matthew J, Kamaya Shin, Zhang Kang
Beijing Institute of Ophthalmology, China.
Ann Acad Med Singap. 2006 Jun;35(6):408-10.
In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.
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.
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.
A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.
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。
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。
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。
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）。
