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مقاله
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Abstract
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Title:
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Evaluating the Association Between VSXI mutation with Keratoconus and the Corneal granular dystrophy in an Iranian family
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Author(s):
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Hossein Aghamollaei, Khosrow Jadidi, Seyed Aliasghar Mosavi, Saeid Morovvati
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Presentation Type:
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Poster
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Subject:
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Cornea and Anterior Segment
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Others:
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Presenting Author:
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Name:
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Hossein Aghamollaei
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Affiliation :(optional)
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Basir eye health research center
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E mail:
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aghamolaei22@gmail.com
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Phone:
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Mobile:
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09122793682
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Purpose:
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To evaluate association between mutations in the visual system homeobox 1 (VSX1) gene and keratoconus (KCN) and Corneal granular dystrophy (CGD), direct sequencing was performed in an Iranian family affected by KCN and CGD in four generations
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Methods:
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An Iranian pedigree with keratoconus spanning four generations along with CGD was identified. Genomic DNA was extracted from whole blood samples. Then, to study the possible linkage between KCN and CGD, the entire coding region and intron-exon boundaries of VSX1 gene was amplified by PCR in each sample. Subsequently, PCR products were subjected to direct sequencing and mutation analysis was conducted in the patients and controls.
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Results:
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Mutation analysis in VSX1 gene did not detect evidence for association between KCN and CGD diseases and VSX1 gene
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Conclusion:
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Our data suggest no significant association between KCN patients with CGD and VSX1 gene variations. Other probable genes involved in pathogenesis of the KCN and GCD diseases need to be investigated in the patients
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Attachment:
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5314sample.pptx
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