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مقاله
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Abstract
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Title:
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Identification of two novel and one common TGFBI gene mutations in Granular Corneal Dystrophy patients from a remote area of Iran
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Author(s):
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Mohsen Gohari , Armin hemati , Alireza Soleimani , Majid Rasti , Manija Mahdavi, Mohammad Hasan Sheikhha
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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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Armin Hemmati
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Affiliation :(optional)
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yazd Geriatric Research Centre
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E mail:
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armin7hemati@gmail.com
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Phone:
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05117680847
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Mobile:
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09370854708
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Purpose:
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Granular corneal dystrophy (GCD) is an autosomal dominant diseases manifested by loss of corneal transparency and refractive index. A common pathogenetic mechanism of disease is recurrent mutations in the Transforming Growth Factor, Beta-Induced (TGFBI) gene.
In this research the TGFB1 gene mutation was investigated in the patients with GCD from a small, remote and isolated area of Iran with high incidence of GCD.
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Methods:
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DNA was extracted from peripheral blood of the patients and direct sequencing was performed after PCR of exons 4, 11, 12 and 14 of the TGFBI gene.
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Results:
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. There was no mutation detected in exons 11, 12 and 14 of the patients. While 3 heterozygous missense mutations in exon 4 was identified in some patients.
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Conclusion:
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Our results of TGFBI mutations in Halavn, Iran showed two new mutations in addition to one previously reported common mutation. The founder effect in the population under study may explain this unique result of TGFBI mutations in the patients.
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Attachment:
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4221granular dystrophy.pptx
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