FIGURE 1.
Representative sequencing chromatograms of KCNJ5 and CACNA1D gene in APAs and patient blood in China. (A, B) The G151R mutation represents 2 kinds of substitutions, G151RG/C and G151RG/A, both of which result in a glycine-to-arginine change at codon 151. (C) The L168R T/G substitution leads to a glycine-to-arginine change at codon 168. (D) The T158A A/G substitution leads to a Threonine-to-Alanine change at codon 157. (E) The mutation in CACNA1D gene, c.2242G>A, causes a valine-to-isoleucine change at codon 748. (F) The mutations c.439G>C and c.448-449insCAACAACCA result in a glutamic acid-to-glutamine change at codon 147 and frameshift mutation at codon 150. (G) The duplication mutation c.457_492dupG_G leads to the duplication of the sequence from amino acids 153 to 164. No mutations were identified in the corresponding blood DNA samples from Beijing patients. APA = aldosterone-producing adenoma.