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 language | English |
---|---|
Pages (from-to) | 288-290 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 64 |
Issue number | 3 |
DOIs | |
Publication status | Published - Sept 1983 |