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Abstract #11425 Published in IGR 6-3
Study on single nucleotide polymorphism of OPTN gene in a family with primary open angle glaucoma
Li S; He X; Li H; Xu J; Cheng HChinese Ophthalmic Research 2004; 22: 521-524
OBJECTIVE: To screen the mutations of 4-16 exons in the optic neuropathy inducing protein gene (OPTN) and investigate the relationship between the single nucleotide polymorphism (SNP) and primary open angle glaucoma (POAG) in a Chinese family. METHODS: Genetic survey and fluorescent labeling automated sequencing method were used to detect the SNPs of OPTN gene in 11 patients with POAG and 9 first-degree relatives in the same family. The restriction endonulease analysis was employed to verify the same SNPs in the 32 control subjects without POAG. RESULTS: A total of 5 SNP sites were identified in all encoding exon regions of OPTN gene, including 412G > A,603T > A,1 267-1 268 ins C and 1 271-1 272 ins C,1 537-1 538 ins and 1 878-1 879 ins A. All the mutations, except the 412G > A, would result in changes of codons in OPTN gene. There were significant differences between the POAG patients and the controls. CONCLUSION: The mutations of OPTN gene may be one of the causes resulting in POAG in the family. LA: Chinese
Dr. S. Li, Department of Ophthalmology, Daping Hospital, Third Military Medical University, Chongqing 400042, China
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
