Table 1 —

Mutations in the HNF-1α and glucokinase genes in Chinese subjects with early-onset diabetes

SubjectLocationCodon/ntNucleotide changeDesignation
HNF-1α mutation
 HK90*, YDM42Exon 120GGG (Gly)→AGG (Arg)G20R
 YDM20Exon 2116GCG (Ala)→GTG (Val)A116V
 HK10*Intron 2/Exon 3nt-1AG→AA at splice acceptor siteIVS2nt-1G→A
 HK54*Exon 3203CGT (Arg)→CAT (His)R203H
 HK30*Exon 6432TCC (Ser)→TGC (Cys)S432C
 HK92*Exon 10618ATC (Ile)→ATG (Met)I618M
Glucokinase mutation
 YDM142Exon 3101GTG (Val)→ATG (Met)V101M
 HK84*Exon 3110ATC (Ile)→ACC (Thr)I110T
 HK38*Exon 3119GCT (Ala)→GAT (Asp)A119D
 YDM67, YDM144Exon 7239CAG (Gln)→CGG (Arg)Q239R
 HK15*Exon 9385GGG (Gly)→GTG (Val)G385V
  • *

    * Reported in previous studies (25,47).

  • Newly found in the present study.