December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Identification and Mutation Screening of a Novel Candidate Gene in the GLC1F Region
Author Affiliations & Notes
  • H Xu
    Ophthalmology Oregon Health & Science University Portland OR
  • TS Acott
    Ophthalmology Oregon Health & Science University Portland OR
  • MK Wirtz
    Ophthalmology Oregon Health & Science University Portland OR
  • Footnotes
    Commercial Relationships   H. Xu, None; T.S. Acott, None; M.K. Wirtz, None. Grant Identification: NIH Grant EY10555, NIH Grant EY11650, RPB Unrestricted Grant, NIH Grant EY03279, NIH Grant EY08247,
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1042. doi:
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    • Get Citation

      H Xu, TS Acott, MK Wirtz; Identification and Mutation Screening of a Novel Candidate Gene in the GLC1F Region . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1042.

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

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Abstract

Abstract: : Purpose: A novel expressed sequence tag (EST) was identified localizing to the GLC1F region on chromosome 7 through random sequencing of over a thousand clones from a human trabecular meshwork (HTM) cDNA library. The purpose was to characterize the entire cDNA encoding this novel EST to allow mutation screening for GLC1F. Methods: Random sequencing of clones from a HTM cDNA library was used to identify this novel EST. Northern analysis was performed to determine the mRNA size. In silico cloning was conducted to retrieve the entire cDNA sequence from the Unigene database for related ESTs and align them using Seqencher program. The consensus sequence was blasted against genome database to obtain information on intron-exon boundary. Monoallelic mutation screening of this gene is being conducted on the family members whose glaucoma-causing gene was previously mapped to the GLC1F region by our group. Results: A novel EST was identified from the HTM cDNA library. Northern analysis showed that the message is expressed in eight different human tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. A single transcript of 2.9kb was observed. Approximately 2.9 kb of sequence was obtained through in silico cloning. Six exons comprising the entire coding sequence were identified from 6893 bp of genomic sequence. Monoallelic mutation screening of this novel gene in affected GLC1F members is being conducted . Conclusion: A novel gene has been identified localizing to the GLC1F region. It is expressed in the HTM and eight different human tissues. Based upon its chromosomal location, this novel gene is an ideal glaucoma candidate gene.

Keywords: 417 gene/expression • 601 trabecular meshwork • 476 molecular biology 
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