Ogino Ken, Oishi Akio, Makiyama Yukiko, Nakagawa Satoko, Kurimoto Masafumi, Otani Atsushi, Yoshimura Nagahisa
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Japan.
Nippon Ganka Gakkai Zasshi. 2013 Jan;117(1):12-8.
To investigate the pathogenic variants of retinal dystrophies in the Japanese population using microarray analysis.
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.
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.
Genotype screening using microarray analysis can be effectively used to determine the variants of retinal dystrophies, except retinitis pigmentosa, in the Japanese population.
利用微阵列分析研究日本人群视网膜营养不良的致病变异。
Asper生物技术服务公司对84个患有视网膜营养不良（色素性视网膜炎、莱伯先天性黑矇、视锥-视杆营养不良和比埃蒂结晶样视网膜病变）家庭（87名患者）的血样提取的DNA进行筛查。通过微阵列分析检测到的所有变异均经直接测序验证。
在36个常染色体显性色素性视网膜炎家庭中的2个、4个莱伯先天性黑矇家庭中的2个、24个视锥-视杆营养不良家庭中的11个、7个黄斑营养不良家庭中的3个以及7个比埃蒂结晶样视网膜病变家庭中的6个中检测到突变。
在日本人群中，利用微阵列分析进行基因型筛查可有效用于确定除色素性视网膜炎外的视网膜营养不良变异。
