Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning

J. L. Dempsey, A. A. Morley, R. S. Seshadri, B. T. Emmerson, R. Gordon, C. I. Bhagat

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    43 Citations (Scopus)

    Abstract

    Using a limiting dilution technique, we found that the frequency of thioguanine resistant (TGR) lymphocyte clones was less than 5.0x10-5 in 14 normal individuals, between 9.0x10-3 and 8.9x10-2 in seven heterozygotes for Lesch-Nyhan syndrome, and 0.88 and 0.87 in two hemizygotes. TGR clones from heterozygotes were expanded and had the hemizygote phenotype as evidenced by low hypoxanthine incorporation and severely deficient hypoxanthine-guanine-phosphoribosyl-transferase activity. Enumeration of TGR lymphocyte clones provides a simple technique for detection of heterozygosity for Lesch-Nyan syndrome. A similar approach using lymphocyte cloning may be suitable for detection of the carrier state for other X-linked disorders.

    Original languageEnglish
    Pages (from-to)288-290
    Number of pages3
    JournalHuman Genetics
    Volume64
    Issue number3
    DOIs
    Publication statusPublished - Sep 1983

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