Figure 6. Direct sequencing of exon 2 of LMX1B in the proband (individual III-7) and PCR-RFLP analyses of the family. The DNA sequence around the codon of Glutamine 194 (CAA) of LMX1B is presented. The sequence shows a heterozygous, single-base A→C transversion at nucleotide 194 resulting in the replacement of glutamine (CAA) by proline (CCA; c.194 A>C) in codon 65 (Q65P). The amino acid sequence is indicated at the top of the figure (A). PCR-RFLP analyses of individuals III-2, III-7, III-8, IV-2, IV-8, IV-9, and V-1 were performed. Exon 2 was amplified from each available family member and digested with HaeIII. The products were analyzed by a 3.5% agarose gel electrophoresis (B).