Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.
Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency Dra I RFLP, have been isolated and cloned from a human chromosome 13-specific phage library and localized at 13q14. Their subband localization was described using a panel of cell lines from patients with different chromosome 13 deletions. A quantitative analysis of hybridization signals was carried out, taking for reference a single-copy DNA sequence from another chromosome. D13S21 and D13S22 were both assigned to q14.1-14.2, which also harbors the genes responsible for retinoblastoma and Wilson disease. The Dra I polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease.
D002460:Cell Line; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*
D004247:DNA