ISSN: 1300-0365
Dil: Türkçe
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Genetics Of Retinoblastoma
Zuhal SUYUGÜL*
*Uzm.Dr. İ.Ü.Cerrahpaşa Tıp Fakültesi ,Genetik ve Teratoloji Uygulama Merkezi (GETAM) ,İSTANBUL
GENETICS OF RETINOBLASTOMA
Either sporadic or hereditary retinoblastoma is one of the most, serious intraocular tumor in childhood. Retinoblastoma
gene regulates cell cycle that is located on chromosome 13q 14 band. A mutation of both alleles of the chromosome
13, results in an inacth/ation of the gene causing retinoblastoma. The mutant retinoblastoma gene penetrance is 90%. A
variety of DNA analysis techniques have been developed to demonstrate the retinoblastoma gene mutations. Therefore,
prenatal diagnosis can achieve of the retinoblastoma cases. Especially those methods have been developed in hereditary
form of retinoblastoma which is seen in 40% of the whole cases. Now it's possible for genetic counselling with the help
of DNA analysis methods.Keywords: Retinoblastoma, Genetic
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