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Abstract #22366 Published in IGR 10-4
Study of novel mutation of OPTN gene in two primary open-angle glaucoma families in northeast China
Yuan HP; Xiao Z; Xu N; Yang BB; Meng QF; Li YYZhonghua Yan Ke Za Zhi 2008; 44: 147-151
OBJECTIVE: To identify the mutation gene of two Chinese families with primary open-angle glaucoma. METHODS: It was a case control study. Clinical observation and pedigree analysis were undertaken in two families with primary open-angle glaucoma. Venous blood were drawn from 6 affected and 6 unaffected subjects in family L, and from 4 affected and 4 unaffected subjects in family C. Genomic DNA was extracted. Linkage to OPTN gene locus was determined. Mutation of this gene was screened by PCR of OPTN gene exons and direct sequencing. RESULTS: A missense mutation A1274G in exon 10 of OPTN gene was identified in affected members of family L. The corresponding amino acid change was Lys322Glu. This mutation was not found in unaffected family members of family L, all members of family C and 87 unrelated normal controls. CONCLUSION: A novel mutation of OPTN gene with Lys322Glu change is responsible for the occurrence of primary open-angle glaucoma in a Chinese family. LA: Chinese
Dr. H.P. Yuan, Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China. yuanhp@yahoo.com
