Dryja T P, Rapaport J M, Epstein J, Goorin A M, Weichselbaum R, Koufos A, Cavenee W K
Am J Hum Genet. 1986 Jan;38(1):59-66.
We provide evidence that some human osteosarcomas arise subsequent to the development of homozygosity at loci on the long arm of chromosome 13. The resulting chromosome 13q homozygosity allows the phenotypic expression of any recessive allele on that chromosome. Clinical evidence suggests that it is the retinoblastoma locus within 13q14 that is involved in the formation of these bone tumors.
我们提供的证据表明,一些人类骨肉瘤是在13号染色体长臂上的位点出现纯合性之后发生的。由此产生的13q染色体纯合性使得该染色体上任何隐性等位基因得以表型表达。临床证据表明,正是13q14区域内的视网膜母细胞瘤位点参与了这些骨肿瘤的形成。