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View Article and Find Full Text PDFThe genetic background of congenital glaucoma in a consanguineous south Indian family was examined by homozygosity analyses. Significant evidence for the homozygosity of alleles was detected for markers D2S177 and D2S1346 that are tightly linked to the CYP1B1 gene, and further involvement of this gene was confirmed by the co-segregation of a novel truncating mutation (Q110X) in exon 2 with the disease in all affected members. Newborn genetic screening and carrier identification were also performed in the family.
View Article and Find Full Text PDFPurpose: Optineurin gene (OPTN) mutations are reported in primary open angle glaucoma patients (POAG) from different populations. The coding and noncoding regions of OPTN were screened for mutations in 100 Indian high tension glaucoma patients (HTG). The frequency of the OPTN M98K mutation in an additional 120 patients (70 HTG and 50 normal tension glaucoma [NTG]) was analyzed by restriction enzyme digestion.
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