Genomic structure of the human congenital chloride diarrhea (CLD) gene

Gene. 1998 Jul 3;214(1-2):87-93. doi: 10.1016/s0378-1119(98)00261-3.


Congenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chlorides / metabolism*
  • Cloning, Molecular
  • DNA / genetics
  • DNA Primers / genetics
  • Diarrhea / congenital*
  • Diarrhea / genetics*
  • Diarrhea / metabolism
  • Exons
  • Genome, Human
  • Humans
  • Introns
  • Ion Transport / genetics
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / metabolism*
  • Molecular Sequence Data
  • Multigene Family
  • Mutation
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic


  • Chlorides
  • DNA Primers
  • DNA