Haila S, Höglund P, Scherer S W, Lee J R, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle A, Kere J
Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland.
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).
先天性氯化物腹泻（CLD）是由编码一种肠道阴离子转运体的基因突变引起的。我们在此报告人类CLD基因完整的基因组结构，该基因跨度约39kb，包含21个外显子。所有外显子/内含子边界均符合GT/AG规则。对假定的启动子区域序列分析显示有一个假定的TATA框，并预测有多个转录因子结合位点。利用来自多种来源的DNA确定了基因组结构，这些来源包括多个大插入片段文库以及芬兰CLD患者和对照的基因组DNA。本研究中开发的外显子特异性引物将有助于对该病患者进行突变筛查研究。一个BAC克隆H_RG364P16的基因组测序显示，在CLD基因的3'端存在另一个高度同源的基因，其基因组结构相似，最近被鉴定为 Pendred 综合征基因（PDS）。
