Identification Of A Novel Mutation In Chinese Patients Of Ocular Albinism

ObjectiveThe purpose of the study was to explore the GPR143gene (G-proteincoupled receptor143) mutation in Chinese families with OA1and to disclose thegenotype-phenotype characteristics of OA1in Chinese.MethodsWe collected5samples of OA1patients and100unaffected subjects fromChinese people. Total genomic DNA was extracted from blood samples usingDNA extraction kit. All exons of GPR143including intron-exon boundaries wereamplified by polymerase chain reaction (PCR) and direct sequencing. When apreviously unreported mutation was considered, denaturing high-performance liguidchromatography analysis or direct sequencing was carried out to test the100unaffected subjects to exclude the possibility of polymorphism.ResultsA novel mission mutation E235K on exon7of GPR143was identified in twoOA1patients and not found in100unaffected subjects. Mutations were not found inother three OA1patients.ConclusionsThe novel mutation E235K of GPR143was indentified in Chinese OA1patients.This finding extend the mutational spectrum of GPR143gene and will be useful forgene diagnosis and genetic counseling in Chinese OA1patients.