Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
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发表时间：
2005-07
期刊：
影响因子：
2.2
通讯作者：
Zi-Bing Jin;Xiao-Qiang Liu;A. Uchida;R. Vervoort;K. Morishita;M. Hayakawa;A. Murakami;N. Matsumoto;N. Niikawa;N. Nao‐i
中科院分区：
文献类型：
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作者：
Zi-Bing Jin;Xiao-Qiang Liu;A. Uchida;R. Vervoort;K. Morishita;M. Hayakawa;A. Murakami;N. Matsumoto;N. Niikawa;N. Nao‐i
目的描述一个X连锁视网膜色素变性（XLRP）日本家系中RPGR基因中跨整个RCC 1样结构域的宏缺失。方法采用临床眼科检查和基因组DNA提取方法。基因组DNA通过Southern印迹和特异性引物PCR扩增进行分析。结果患者症状重，起病早，恶化快. PCR扩增和Southern杂交分析表明，RPGR基因的5'端缺失。通过设计侧翼PCR引物对缺失进行了确认和表征：缺失起始点位于外显子1翻译起始位点上游80 bp处，终止点位于外显子11下游42 bp处。结论该30 kb缺失包含编码RPGR RCC 1样结构域的外显子。这是第一个报告的宏删除，跨越整个RCC 1样结构域的RPGR在X-连锁视网膜色素变性患者，并表明，该结构域的功能丧失破坏了RPGR在人类视网膜中的功能。
PURPOSE To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). METHODS Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers. RESULTS Patients had severe symptoms with early onset and rapid deterioration. PCR amplification and Southern blot analysis revealed the absence of the 5' half of the RPGR gene. The deletion was confirmed and characterized by designing flanking PCR primers: the deletion start point was located 80 bp upstream of the translation start site in exon 1, the end point was 42 bp downstream of exon 11. CONCLUSIONS This 30 kb deletion contains the exons coding for the RCC1-like domain of RPGR. It is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients, and suggests that loss of function of this domain disrupts the function of RPGR in human retina.