April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Impact of LTBP2 Gene Variations on Primary Congenital Glaucoma
Author Affiliations & Notes
  • R. Sharafieh
    Surgery, University of Connecticut Health Center, Farmington, Connecticut
    Dept. of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom
  • A. Child
    Dept. of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom
  • M. Sarfarazi
    Surgery, University of Connecticut Health Center, Farmington, Connecticut
  • Footnotes
    Commercial Relationships  R. Sharafieh, None; A. Child, None; M. Sarfarazi, None.
  • Footnotes
    Support  NIH Grant EY011095
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2183. doi:https://doi.org/
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    • Get Citation

      R. Sharafieh, A. Child, M. Sarfarazi; Impact of LTBP2 Gene Variations on Primary Congenital Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2183. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Recently, LTBP2 on 14q24.3 has been shown to be causative in primary congenital glaucoma (PCG) patients from Pakistan and Iran. We aimed to screen a group of sporadic British PCG subjects and to determine if LTBP2 is responsible for the GLC3C locus that we previously mapped to this region. Overall impact of this gene on familial and sporadic cases is being investigated.

Methods: : Sequence specific primers flanking the intron-exon junctions were used for PCR-amplification, and direct DNA sequencing was performed on an ABI-3100 system. This study included a Turkish family linked to the GLC3C region and, 94 other familial/sporadic British PCG subjects, which were previously excluded as having any CYP1B1 mutations.

Results: : LTBP2

Conclusions: : The impact LTBP2 has in PCG patients is vital in understanding the role that this gene plays in different populations. Disease causative nature of 6/10 observed sequence alterations remain unknown. Ultimately, we will be able to determine how many sequence variations are present in this gene and how many will have a probable effect on the etiology of familial and sporadic cases of PCG patients with different ethnic background than the ones previously reported from Pakistan and Iran.

Keywords: genetics • gene screening 
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