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

Using a limiting dilution technique, we found that the frequency of thioguanine resistant (TGR) lymphocyte clones was less than 5.0 X 10(-5) in 14 normal individuals, between 9.0 X 10(-3) and 8.9 X 10(-2) in seven heterozygotes for Lesch-Nyhan syndrome, and 0.88 and 0.87 in two hemizygotes. TGR clon...

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Bibliographic Details
Published in:Human genetics 1983-09, Vol.64 (3), p.288-290
Main Authors: DEMPSEY, J. L, MORLEY, A. A, SESHADRI, R. S, EMMERSON, B. T, GORDON, R, BHAGAT, C. I
Format: Article
Language:English
Subjects:
Biological and medical sciences
Clone Cells
Drug Resistance
Errors of metabolism
Female
Genetic Carrier Screening - methods
Humans
Lesch-Nyhan Syndrome - genetics
Lymphocytes - drug effects
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Thioguanine - pharmacology
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Summary:Using a limiting dilution technique, we found that the frequency of thioguanine resistant (TGR) lymphocyte clones was less than 5.0 X 10(-5) in 14 normal individuals, between 9.0 X 10(-3) and 8.9 X 10(-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-Nyhan syndrome. A similar approach using lymphocyte cloning may be suitable for detection of the carrier state for other X-linked disorders.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00279414