We searched for possible mutations in the E2F-binding region of retino
blastoma gene in primary human renal cell carcinomas, using polymerase
chain reaction and single-strand conformational polymorphism analysis
of RNA. Retinoblastoma gene mutation was detected in 1 of 21 cases (5
%). DNA sequencing of the polymerase chain reaction product verified t
hat this case had a 6-base deletion at the beginning of exon 8. Our fi
ndings suggest that mutation of the retinoblastoma gene is involved in
only a subgroup of sporadic human renal cell carcinomas.