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Lesch‐Nyhan syndrome: Rapid detection of heterozygotes
Author(s) -
Wood Stephen,
Pinsky Leonard
Publication year - 1970
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1970.tb01637.x
Subject(s) - heterozygote advantage , lesch–nyhan syndrome , mutant , compound heterozygosity , mutation , microbiology and biotechnology , hypoxanthine guanine phosphoribosyltransferase , genetics , biology , chemistry , gene , allele
A simple, rapid test has been developed for heterozygous carriers of the mutant gene responsible for the Lesch‐Nyhan syndrome. The test is based upon the ability of cultured skin fibroblasts to incorporate 14 C‐adenine following exposure to the purine analogue 8‐azaguanine (8AG). Heterozygous cultures had an intermediate level of resistance to the inhibitory action of 8AG.