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



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



Gene 214(1-2): 87-93



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 39 kb, 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).

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Accession: 017921943

Download citation: RISBibTeXText

PMID: 9729124

DOI: 10.1016/s0378-1119(98)00261-3


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