[Genotype screening of retinal dystrophies in the Japanese population using a microarray].
[Genotype screening of retinal dystrophies in the Japanese population using a microarray].
复制标题
[使用微阵列对日本人群视网膜营养不良进行基因型筛查]。
DOI：
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发表时间：
2013
期刊：
影响因子：
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通讯作者：
N. Yoshimura
中科院分区：
文献类型：
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作者：
K. Ogino;A. Oishi;Yukiko Makiyama;Satoko Nakagawa;M. Kurimoto;A. Otani;N. Yoshimura
目的
使用微阵列分析研究日本人群视网膜营养不良的致病变异。
主题和方法
Asper Biotech 服务对从 84 个患有视网膜营养不良（色素性视网膜炎、莱伯先天性黑蒙、视锥杆营养不良和 Bietti 晶体视网膜病）的家庭（87 名患者）的血液样本中提取的 DNA 进行了筛选。微阵列分析检测到的所有变异均通过直接测序进行验证。
结果
36个患有常染色体显性遗传性视网膜色素变性的家系中，有2个检测到突变；4个患有莱伯先天性黑蒙的家系中检测到了2个突变；24个患有视锥杆营养不良的家系中检测到了11个突变；7个患有黄斑营养不良的家系中检测到了3个突变；7个患有Bietti晶体视网膜病的家系中检测到了6个突变。
结论
使用微阵列分析进行基因型筛查可有效地确定日本人群中除色素性视网膜炎外的视网膜营养不良变异。
PURPOSE
To investigate the pathogenic variants of retinal dystrophies in the Japanese population using microarray analysis.
SUBJECTS AND METHODS
DNA extracted from the blood samples of 84 families (87 patients) with retinal dystrophies (retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy and Bietti's crystalline retinopathy) was screened by Asper Biotech services. All the variants detected by microarray analysis were verified by direct sequencing.
RESULTS
Mutations were detected in 2 of 36 families with autosomal dominant retinitis pigmentosa, 2 of 4 with Leber congenital amaurosis, 11 of 24 with cone-rod dystrophy, 3 of 7 with macular dystrophy and 6 of 7 with Bietti's crystalline retinopathy.
CONCLUSION
Genotype screening using microarray analysis can be effectively used to determine the variants of retinal dystrophies, except retinitis pigmentosa, in the Japanese population.