[Genotype screening of retinal dystrophies in the Japanese population using a microarray]
Ken Ogino1, Akio Oishi, Yukiko Makiyama
1Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Japan. kenboo@kuhp.kyoto-u.ac.jp
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.
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