Clinical and molecular findings in three Japanese patients with crystalline retinopathy
Clinical and molecular findings in three Japanese patients with crystalline retinopathy
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DOI：
10.1007/s10384-006-0350-0
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发表时间：
2006-09-01
影响因子：
2.4
通讯作者：
Nao-i, Nobuhisa
中科院分区：
文献类型：
--
作者：
Jin, Zi-Bing;Ito, Shigeo;Nao-i, Nobuhisa
目的：检测3例无血缘关系的日本Bietti结晶性角膜新生视网膜营养不良(BCD)患者的细胞色素P4V2基因突变。所有外显子及两侧内含子均经聚合酶链式反应(PCR)扩增。对扩增产物进行直接测序分析。结果：在病例1和病例3中，病例1和病例3均检测到17个碱基缺失和2个碱基插入的纯合子突变(c.802-8del17bp/insGC)，RT-PCR检测到外显子7的全长缺失；病例2只检测到外显子11的杂合性突变，没有第二次突变。这些数据表明C.802-8del17bp/insGC可能是该基因的一个频繁突变。
Purpose: To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD).Methods: The three cases were diagnosed by ophthalmological examinations. All exons and flanking introns were amplified by polymerase chain reaction (PCR). PCR products were analyzed by direct sequencing. RNA was extracted from blood samples and analyzed by reverse transcriptase (RT)-PCR sequencing.Results: Direct PCR sequencing demonstrated a homozygous mutation involving a 17-bp deletion together with a 2-bp insertion (c.802-8del17bp/insGC) in case 1 and case 3, and RT-PCR demonstrated that the complete length of exon 7 was missing; case 2 showed only a heterozygous change in exon 11 with no second mutation.Conclusion: A homozygous mutation was identified in two of the unrelated patients,_and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in this gene.