April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Confirmation and Further Mapping of the GLC3C Locus for Primary Congenital Glaucoma
X. Chen; Y. Chen; W. Wang; D. Jiang; M. Xia; L. Yu; X. Sun
Author Affiliations & Notes
  • X. Chen
    Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, Shanghai, China
  • Y. Chen
    Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, Shanghai, China
  • W. Wang
    Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences,Fudan University, Shanghai, China
  • D. Jiang
    Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences,Fudan University, Shanghai, China
  • M. Xia
    Institute of Biomedical Science, Fudan University, Shanghai, China
  • L. Yu
    Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences,Fudan University, Shanghai, China
    Institute of Biomedical Science, Fudan University, Shanghai, China
  • X. Sun
    Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, Shanghai, China
  • Footnotes
    Commercial Relationships  X. Chen, None; Y. Chen, None; W. Wang, None; D. Jiang, None; M. Xia, None; L. Yu, None; X. Sun, None.
  • Footnotes
    Support  Program of Shanghai Subject Chief Scientist (Grant No. 08XD14011)
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 859. doi:
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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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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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).

Conclusions: : 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.

Keywords: genetics • infant vision 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2015 Association for Research in Vision and Ophthalmology.
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