Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma
- PMID: 2063924
- DOI: 10.1002/ajmg.1320390215
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma
Abstract
DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB-1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.
Comment in
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Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma.Am J Med Genet. 1992 Sep 15;44(2):255. doi: 10.1002/ajmg.1320440235. Am J Med Genet. 1992. PMID: 1456305 No abstract available.
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