Figure  4.

FH mutations in patients with HLRCC. Sequencing chromatograms of genomic DNA from control subjects and patients are shown at left (arrows indicate the position of the identified nucleotide changes), and pedigrees are shown at right (asterisks indicate history of renal cancer). The delA at nucleotide 1162 (A), a delG at nucleotide 1339 (D), a delGC at nucleotides 780 and 781 (E), and an 8-bp duplication at nucleotides 1300–1307 (F) cause shifts in the reading frame that lead to a stop codon downstream and truncate the corresponding protein; a missense mutation, G569A (B), changes an arginine to a histidine at codon 190, and another missense mutation, C823T (C), changes a histidine to a tyrosine at codon 275. Sequences containing insertions and deletions are derived from subcloned alleles from affected patients.