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S.P. Suriyapperuma, A. Child, L. Papacs, R. Crick, M. Sarfarazi; Candidate Gene Screening of Adult-Onset Primary Glaucoma (POAG) Linked to 2p14-p16 . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1132.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: We previously presented a potential locus for adult-onset POAG (ARVO, 2001 #2849) on 2p14-p16. This locus is flanked by two DNA markers of D2S123 and D2S329 but includes a critical region of 4 cM between D2S2352 and D2S2165. The 7.8 Mb critical region is represented by approximately 100 Bacs and consists of 18 genes, 44 predicted genes and numerous EST clones. We aimed to identify the disease-causing gene by candidate gene screening. Methods: Candidate genes are prioritized based on their ocular/neuronal expression, protein domains or predicted functions. The coding sequences of genes are screened by direct sequencing of overlapping fragments amplified from cDNA prepared from the cell lines of affected patients. Results: We have screened many genes and have identified numerous polymorphisms that are not related to POAG phenotype. A partial list of genes with alterations is shown below. We found no mutations in EFEMP, GPR75, RTN4 and SPTBN1, which are expressed in eye or brain. Furthermore, 9 predicted genes collectively showed 9 insertions, 12 deletions and 24 SNPs, including 15 homozygous and one missense change. Whether these polymorphisms are of any physiological significance other than glaucoma causing remains to be determined. Conclusions: So far, we have been unable to identify the putative gene for the POAG locus on 2p14-p16. Yet, we have identified many new splice variants of genes that could be involved in different cellular cascades. Supported by EY-09947 and M01RR-06192. View OriginalDownload SlideView OriginalDownload Slide
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