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Abstract #15832 Published in IGR 2-3
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients
Leung YF; Baum L; Lam DSC; Fan DSP; Chua JKH; Pang CPHuman Genetics 2000; 107: 404-405
The authors investigated the coding exon and promoter sequence in the trabecular meshwork-inducible stretch response (TISR)/oculomedin gene for mutations in Chinese primary open angle glaucoma (POAG) subjects. The entire TISR/oculomedin coding sequence, together with 138 bp of promoter sequence 5' to the start codon and 170 bp of the 3' untranslated region in 110 Chinese POAG patients and 108 unrelated control subjects without glaucoma, aged 50 years or above, were screened for alterations by DNA sequencing. One heterozygous sequence alteration, K28E, was identified in one control subject, and two homozygous sequence alterations, K28K and 135+36delC, were universally found in every sample. As a result, no common TISR/oculomedin coding sequence nor any proximal promoter mutation that causes POAG was found. The effect of TISR/oculomedin in glaucoma has yet to be established.
Dr. C.P. Pang, Department of Ophthalmology and Visual Science, Chinese University of Hong Kong, Hong Kong Eye Hospital, 147 K Argyle Street, Kowloon, Hong Kong
Classification:
1.2 Population genetics (Part of: 1 General aspects)
