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Clinical Chemistry 28: 1181-1184, 1982;
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Clinical Chemistry, Vol 28, 1181-1184, Copyright © 1982 by American Association for Clinical Chemistry

An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes

T Page, B Bakay and WL Nyhan

The absence of activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) is known to be the cause of the Lesch-Nyhan syndrome. Previous methods for detection of heterozygous carriers of this genetic defect either are quite time consuming, require specialized equipment, or lack the necessary sensitivity. We present here a method in which thin-layer chromatography and autoradiography are used to assay the activity of this enzyme in individual hair roots collected from the scalp of the possible carrier. This method is fast and sensitive, and requires no specialized equipment.




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Copyright © 1982 by the American Association for Clinical Chemistry.