Abstract
Sequence and length polymorphism near the putative transcription initiation region of human ribosomal DNA (rDNA) has been defined using the complementary techniques of restriction analysis and recombination cloning. Seventeen bacteriophage clones of the human rDNA EcoRI B fragment which contains non-transcribed spacer, external transcribed spacer, and 18S gene sequences were compared by partial restriction analysis of end-labelled DNA segments. Restriction patterns of the external transcribed spacer and 18S gene regions were strikingly similar among the clones, but variable restriction sites for the enzymes Sma I and Bgl I were located in the non-transcribed spacer region. A probe containing this variable region demonstrated the presence of certain restriction sites in genomic rDNA which do not vary among different individuals or tumor cell lines. In contrast, restriction with the enzyme Sal I reveals several variable fragments, one of which has been found only in a retinoblastoma cell line. This report emphasizes the utility of a detailed restriction map for locating variable regions among cloned DNA segments so that informative probes for polymorphisms in genomic DNA can be constructed.
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Wilson, G., Szura, L. & Dranqinis, A. 775 A COMPREHENSIVE SEARCH FOR POLYMORPHISM IN A SPECIFIC REGION OF HUMAN RIBOSOMAL DNA. Pediatr Res 15 (Suppl 4), 571 (1981). https://doi.org/10.1203/00006450-198104001-00799
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DOI: https://doi.org/10.1203/00006450-198104001-00799