Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease

Hans Scheffer, Ido P. Kema, Ikuko Kondo, Anneke Y van der Veen, Tatsuro Ikeuchi, Charles H. C. M. Buys

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    Abstract

    Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency DraI 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 DraI polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease
    Original languageEnglish
    Pages (from-to)335-337
    Number of pages3
    JournalHUMAN GENETICS
    Volume77
    Issue number4
    DOIs
    Publication statusPublished - Dec-1987

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