Abstract
The isolation of RFLP-revealing DNA sequences from band q14 of chromosome 13 where the retinoblastoma locus has been mapped is a prerequisite for linkage studies in affected families. Until now we have isolated by various approaches nineteen unique chromosome 13-specific DNA sequences from fifteen different loci and subcloned these sequences into pBR329 or pUC9. To find out which sequences derived from 13q14 we constructed a mouse-human cell hybrid lacking 13q14 DNA by carrying out a somatic cell hybridisation between mouse RAG cells and fibroblasts from a patient with retinoblastoma caused by a constitutional deletion of 13q14. We isolated a hybrid cell clone with the deleted chromosome but lacking the normal homologue. Six probes from three different loci did not show hybridisation with DNA from this cell clone. Their putative assignment to 13q14 could be confirmed by means of a mapping panel consisting of hybrid cell lines that we made monosomic for different parts of chromosome 13 by irradiation with X-rays. One of the 13q14 probes detects a low frequency Mspl RFLP. A few probes located outside 13q14 revealed high frequency RFLPs. Two 13q14 probes isolated to date have been used to screen a total human cosmid library. Flanking unique human DNA sequences have been isolated from positive cosmids and a search for RFLPs is in progress. Isolated polymorphic probes are now being applied to linkage studies in families with hereditary retinoblastoma.
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Tan, K., Buys, C. 153 APPLICATION OF POLYMORPHIC CHROMOSOME 13‐SPECIFIC PROBES TO LINKAGE STUDIES IN FAMILIES WITH HEREDITARY RETINOBLASTOMA. Pediatr Res 20, 1059 (1986). https://doi.org/10.1203/00006450-198610000-00208
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DOI: https://doi.org/10.1203/00006450-198610000-00208