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Title: Molecular mutations of retinoblastoma gene among Egyptian children
Author(s): Rabah M. Shawky, Mohamed S.Z. Salem, Mohamed M. Rifaat, Moenes A. Ali, Othman A.O. Zico, Amira Abd Al-Azeem
Source: Egyptian Journal of Medical Human Genetics, 2000, Vol. 1, No. 1,, 83-90

Abstract: This study was designed to detect and define molecular mutations in a sample of Egyptian children affected with retinoblastoma. The study included fifteen cases, eight males and seven females ranging in age from one month to nine years and nine months, selected from cases attending the Genetics Unit and Ophthalmology Department, Ain-Shams University Hospitals and Research Institute of Ophthalmology. All cases were subjected to complete family history and family pedigree construction, full clinical examination and ophthalmologic assessment and a set of molecular investigations comprising extensive polymerase chain reaction multiplexing and two-dimensional polyacrylamide gel electrophoresis. This study revealed that mutations detected among studied cases were distributed through different exons of the retinoblastoma gene with no single "hot spots" or predilection to specific exons. However, some exons were involved in these mutational events more oftenly than others. These results, if complemented by other large-scale similar studies, may disclose the common exons harboring mutations in Egyptian children affected with retinoblastoma, which would be of great help both in diagnosis and predicting prognosis as well as in screening of high risk families predisposed to this tumor...

Addresses: Pediatrics Department and Genetics Unit, Ain-Shams University. Research Institute. Research Institue of Ophthalmology. Ophthalmology Department, Ain-Shams University..

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Country Code: EG