MGY250H1 Study Guide - Final Guide: Knowledge Translation, Genetic Testing, Genetic Counseling
17 Dec 2016
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Document Summary
Know how the retinoblastoma phenotype relates to rb1 genetics. Rb1 +/+ = normal function - need two events to get retinoblastoma (likely only unilateral rb because it is rare to get the same knockout twice) Rb1 - / - = tumour - predisposes individuals to several type of cancer thus an individual with constitutional rb1 - / - is at risk of developing second cancers later in life because their germline cells are affected. Also they have a chance of 50% chance of children having children that will develop retinoblastoma. / - in eye tissue only, they are not at risk for development of second cancers later in life and they are not risk at risk of having a child with rb. Define bilateral and unilateral, m1 and m2 mutation. Bilateral - all bilateral rb are heritable; children born with a mutation in the rb1 gene usually develop retinoblastoma in both eyes (exclusively caused by constitutional rb loss of function)
