Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

See allHide authors and affiliations

Science  07 May 1971:
Vol. 172, Issue 3983, pp. 572-574
DOI: 10.1126/science.172.3983.572


A method is described which permits rapid phenotypic diagnosis of the Lesch-Nyhan heterozygote by direct assay of hypoxanthine guanine phosphori-bosyltransferase activity in single hair follicles obtained from the scalp.