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X. Chen, Y. Chen, W. Wang, D. Jiang, M. Xia, L. Yu, X. Sun; Confirmation and Further Mapping of the GLC3C Locus for Primary Congenital Glaucoma. Invest. Ophthalmol. Vis. Sci. 2009;50(13):859.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the association between primary congenital glaucoma and the candidate disease locus glaucoma 3, congenital, C (GLC3C) on chromosome 14 in Han Chinese population.
Direct DNA sequencing was used to screen 187 unrelated Chinese Han with primary congenital glaucoma for CYP1B1 mutations. 12 short tandem repeat (STR) markers within GLC3C locus flanked by markers D14S61 and D14S1000 were genotyped, and transmission disequilibrium test (TDT) was adopted in small nuclear families without pathogenic CYP1B1. This family-based association was performed using UNPHASED program.
31 patients (16.6%) had CYP1B1 mutations. In 156 trios (156 sick children and 312 normal parents) with nonpathogenic CYP1B1, the strong evidence for transmission disequilibrium was obtained at three makers D14S279(87.361cM, P=0.0211), D14S555 (87.366cM, P= 0.009601) and D14S74 (87.367cM, P= 0.003421).
These findings confirm that GLC3C is a potential disease locus associated with primary congenital glaucoma in the Han Chinese population. In addition, these results suggest that a gene (or genes) causing susceptibility to primary congenital glaucoma resides near location 87.361cM to 87.367cM.
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