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مقاله
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Abstract
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Title:
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Molecular analysis of TYR gene in oculocutaneous albinism patients
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Author(s):
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1-Faravareh Khordadpoor Deilamani, 2-Mohammad Taghi Akbari
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Presentation Type:
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Poster
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Subject:
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Strabismus & Neuro-ophthalmology
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Others:
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Presenting Author:
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Name:
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Faravareh Khordadpoor Deilamani
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Affiliation :(optional)
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1-Science and research branch, Islamic Azad university, Tehran, Iran, 2-Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
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E mail:
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faravarkhordadpoor@yahoo.com
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Phone:
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88896868-9
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Mobile:
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09363463925
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Purpose:
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Nonsyndromic Oculocutaneous albinism is a heterogeneous and autosomal recessive disorder caused by mutations in TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10ORF11 genes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Nystagmus and strabismus are some features of OCA patients.
Based on the genetic mutations in albinism patients, it is possible to prevent from new cases in the family and also to treat them with the newly developed drugs. In addition it is difficult to distinguish the classical OCA based on their clinical signs so the molecular analysis helps for accurate diagnosis.
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Methods:
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five primer pairs were designed for 5 exons of TYR gene and sequencing was performed for one OCA patient and his parents.
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Results:
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we found the mutations R239W in exon 1 and M332I in exon 2 of his TYR gene. The sequencing results in his parents confirmed these mutations.
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Conclusion:
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because of the mutations in TYR gene the type of albinism in this patient was confirmed to be OCA1.
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Attachment:
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4844.pptx
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