Table 1

Polymorphisms in RET and EDNRB genes

Alleles in controlsAlleles in patients
GeneNoFrequencyNoFrequencyPositionNucleotideAmino acid
RET 290.141940.770Exon 2390 A45 A
RET 1770.859280.230390 G45 A
RET 1210.992Exon 3570 C125 V
RET 10.008570 A125 V
RET 770.631Exon 71491 G432 A
RET 450.3691491 A432 A
RET 750.615Exon 132502 C769 L
RET 470.3852502 G769 L
RET 920.754Exon 152907 C904 S
RET 300.2462907 G904 S
EDNRB 540.9311060.883Exon 1ATG-148A5' UTR
EDNRB 40.069140.117ATG-148G5' UTR
EDNRB 480.8571090.924Exon 1c169G57G
EDNRB 80.14390.076c169A57S
EDNRB 490.875960.828Exon 4c818A+c875T273K+292F
EDNRB 70.125200.172c818G+c875G273R+292C
  • Allele frequencies, nucleotides affected, and amino acid exchange are given for the observed polymorphisms of the respective genes.

  • — , not examined.