The molecular nature of mutations that arise in vivo at the human hypo
xanthine-guanine phosphoribosyltransferase (HPRT) locus can be determi
ned A wide variety of such mutations can be detected, including large
and small deletions, frameshift mutations and single-base substitution
s, as well as alterations that cause aberrant mRNA splicing. Here, we
review the available information on mutations at this locus.