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Liping Yang; Inherited eye disease gene chip study. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3370.
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At present, more than 300 genes have been described in association with inherited eye disease, including retinitis pigmentosa, Leber congenital amaurosis, Glaucoma, Corneal dystrophy et al. Which made genetic diagnosis of these diseases difficult and costly. The aim of this study was to evaluate an inherited eye disease gene chip (including 378 inherited eye disease causing genes) for its application to the molecular diagnosis of inherited eye disease in Han Chinese patient.
We analyzed 64 unrelated Han Chinese families with retinitis pigmentosa. Among those 28 were diagnosed as autosomal dominant retinitis pigmentosa, 12 were diagnosed as autosomal recessive retinitis pigmentosa, 24 were diagnosed as X linked retinitis pigmentosa. All mutations found were further confirmed with Sanger sequencing.
In the autosomal dominant retinitis pigmentosa families, the gene chip detected the disease causing mutation in 16 of the 28 families, and RHO was found to be the most frequently mutated gene in these families (14.29% of the adRP families). In the autosomal recessive retinitis pigmentosa families, the gene chip detected the disease causing mutation in 5 of the 12 families, with different mutation in different families. In the X linked retinitis pigmentosa families, the gene chip detected the disease causing mutation in 10 of the 24 families, and RPGR was found to be the most frequently mutated gene in these families (20.84% of the xlRP families). The rate of false positives (microarray results not confirmed with sequencing) was less than 5%.
The inherited eye disease gene chip is a quick, cost-efficient first step in the molecular diagnosis of Han Chinese patient with inherited eye disease.
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