Identification of a PstI polymorphism in the p21Cip1/Waf1 cyclin-dependent kinase inhibitor gene.

A PstI polymorphism in the 3' flanking region of the p21Cip1/Waf1 cyclin-dependent kinase inhibitor gene is described. DNA sequencing analysis identified a C-->T base substitution in the 3' flanking region of the gene. This substitution leads to the destruction of a PstI site and results in a biallelic DNA polymorphism. This restriction fragment length polymorphism (RFLP) provides the first known genetic marker for this cell cycle regulatory gene.