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Abstract #18915 Published in IGR 3-1
Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma
Mabuchi F; Yamagata Z; Kashiwagi K; Tang S; Iijima H; Tsukahara SClinical Genetics 2001; 59: 263-268
The myocilin gene was identified as a gene (MYOC) causing primary open-angle glaucoma (POAG). Although normal tension glaucoma (NTG) patients with the myocilin gene mutation have been reported previously, no study using large numbers of NTG patients has been reported. Single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping the myocilin gene in 114 unrelated Japanese patients with NTG. One hundred and nineteen patients with POAG were studied as well as 100 control subjects without glaucoma as reference subjects. Five amino acid sequence changes of the myocilin were identified: Arg46Stop (one NTG), Arg76Lys (four NTG, ten POAG, seven control), Arg158Gln (one NTG, one POAG, one control) only found in Japanese, Asp208Glu (four NTG, three POAG, one control), Pro481Ser (one control). Pro481Ser was novel. Arg76Lys always occurred with 1-83 from G to A in the promoter, as has been reported in the Chinese. Although some Japanese patients with NTG had sequence changes of the myocilin gene, there were no apparent specific mutations in patients with NTG.
Dr. F. Mabuchi, Department of Health Sciences, Yamanashi Medical University, 1110 Shimokato, Tamaho-cho, Yamanashi 409-3898, Japan
Classification:
1.2 Population genetics (Part of: 1 General aspects)
