Table 1.

Summary of DHPLC mutational screening of the GR in childhood ALL at relapse

Patient no.Exon 2AExon 2BExon 2CExon 3Exon 4Exon 5Exon 6Exon 7Exon 8Exon 9
L76HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
158NDNDNDNDHomoHomoHomoHomoHomoHomo
L171HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
L279HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
L405HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
981HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
1067HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
1533HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
1720HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
1785HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
2045HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
2089HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
2416HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
2578HomoHomoHomoNDNDIVSD −16 G/TNDNDNDHomo
2650HomoHomoHomoHomoHomoIVSD −16 TTHomoHomoHomoN766N CC
2865HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
3451HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
3605NDNDHomoHomoHomoIVSD −16 G/THomoHomoHomoND
3888HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
3990NDNDNDNDNDIVSD −16 TTHomoHomoHomoHomo
4684HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
4845HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
4900HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
5212HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
5467HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
5862HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
5887HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
6250HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
6563HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
6652HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
7096HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
7456HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
8345HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
8394HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
8668HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
8679HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
8839E22E and R23KHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoHomo
8871HomoHomoHomoHomoHomoHomoHomoHomoMutation 29 bp delHomo
8916HomoHomoNDNDNDHomoHomoHomoNDHomo
8917HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
9216HomoHomoN363SHomoHomoHomoHomoHomoHomoHomo
9383HomoHomoHomoHomoHomoIVSD −16 TTHomoHomoHomoHomo
9506HomoHomoHomoHomoHomoHomoHomoHomoHomoN766N CC
9681HomoHomoHomoHomoHomoIVSD −16 G/THomoHomoHomoN766N T/C
9696E22E and R23KHomoHomoHomoNDNDHomoHomoHomoHomo
9768HomoHomoNDNDNDHomoHomoNDHomoHomo
9964NDNDNDHomoNDHomoHomoHomoHomoN766N T/C
10487HomoHomoHomoHomoHomoIVSD −16 TTHomoHomoHomoN766N CC
10818HomoHomoHomoHomoHomoHomoHomoNDHomoHomo
11513HomoHomoHomoHomoHomoHomoHomoHomoHomoHomo
  • NOTE: Nomenclature using NM_000176 as the reference sequence and NCBI annotation: E22E and R23K (198G/A, 200G/A; rs6189, rs6190), N363S (1220G/A; rs6195), and N766N (2430C/T; rs6196).

  • Abbreviations: ND, not done; IVSD −16 (rs6188), intervening sequence D 16 bp before exon 5.