Abstract:

Objective To explore the genotypes and mutational spectrum of OA1 (ocular albinism type1) in 12 Chinese Han patients by screening the GPR143 gene (G-protein coupled receptor 143). Design Gene mutation screening. Participants 12 clinically diagnosed OA1 patients and 120 unaffected subjects. Methods Genomic DNA was extracted from the blood samples. The amplified DNA segments were screened for mutations of GPR143 by direct Sanger sequencing. To exclude the previously unidentified mutations from polymorphisms, samples from 120 unaffected controls were sequenced for the same regions of variations. Main Outcome Measures Gene variation analysis. Results Ten GPR143 gene mutations were detected in twelve patients and seven of these were identified as novel mutations, including c.695C>T, c.688A>G, c.485G>A, c.250+1G>A, c.415delG, c.560dupG and c.208_218del11. Conclusion The findings of this study expand the gene mutation spectrum of GPR143, which is useful to the genetic testing and genetic counseling of Chinese OA patients. (Ophthalmol CHN, 2017, 26: 224-229)

Key words: Ocular albinism, GPR143 gene, Previously unidentified mutation