Human Retinoblastoma Susceptibility Gene
Genetic alterations or predisposition of human cancers have been studied extensively in the last few decades (1–3). These genetic changes, which may be responsible for the genesis of cancers, can either be inherited or occur as a result of somatic mutation. In many cases of heritable human cancers, such as retinoblastoma (RB), Wilms’ tumor (nephroblastoma) and familial polyposis (4–6), the transmission of these genetic defects in affected families is suggested to render them at higher risk and/or higher susceptibility to certain types of cancer (7,8). One of the most well studied heritable cancers is retinoblastoma. Retinoblastoma occurs in young children at an incidence of about 1 in 20,000 live births and it is the most common intraocular tumor of the pediatric age group (9). Two forms of retinoblastoma are distinguished based on their genetic origins (10). Typically, bilateral and/or multifocal retinoblastoma occurs in hereditary cases which comprise 40% of all retinoblastomas. The hereditary form of retinoblastoma is transmitted as an autosomaldominant trait with 90% penetrance (11,12). In addition to the occurrence of childhood retinoblastomas, those people carrying the trait often develop secondary primary tumors, such as osteosarcoma or fibrosarcoma, at higher incidence than the normal population (13,14).
KeywordsCodon Retina Sarcoma Methionine Ampicillin
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