Studies from Y. Wang and colleagues provide new data on ocular albinism
2009 JUN 15 - (NewsRx.com) -- According to a study from Beijing, People's Republic of China, "The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism. The proband underwent a detailed ophthalmologic evaluation." "Blood samples of family members were obtained and genomic DNA isolated. Mutational analysis by SSCP and direct sequencing of the GPR143 gene was used to screen all nine exons including the intron/exon junctions. The novel mutation c. 943G >T (p. G315X) found in the study was confirmed by DHPLC to exclude the possibility of polymorphism. Ophthalmic features of the proband were characteristic of X-linked ocular albinism. The authors identified a novel nonsense mutation p. G315X on exon 8 that was not found in 100 non-albinism subjects by DHPLC. This novel mutation in the GPR143 gene is predicted to subject to nonsense mediated decay. The novel mutation p. G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon," wrote Y. Wang and colleagues. The researchers concluded: "These findings extend the mutational spectrum of GPR143 gene and will be useful for gene diagnosis and genetic counseling in Chinese OA1 patients. (Eur J Ophthalmol 2009; 19:124-8)'." Wang and colleagues published their study in European Journal of Ophthalmology (Identification of a novel mutation in a Chinese family with X-linked ocular albinism. European Journal of Ophthalmology, 2009;19(1):124-128). For more information, contact S. Lian, Capital Med University, Xuan Wu Hospital, Dept. of Dermatology, 45 Changchun St., Beijing 100053, People's Republic of China. Publisher contact information for the European Journal of Ophthalmology is: Wichtig Editore, 72, 74 Via Friuli, 20135 Milan, Italy. Keywords: People's Republic of China, Beijing, DNA, Drugs, Interferon Alfa-2b, Intron, Ocular Albinism, Ophthalmology, Pharmaceuticals, Therapy, Treatment. This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2009, Proteomics Weekly via NewsRx.com.
|
