PubMed:9729124 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9729124","sourcedb":"PubMed","sourceid":"9729124","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9729124","text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital 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 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