艾杜糖醛酸硫酸酯酶（IDS）基因编码序列组织结构的测定。

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.

作者信息

Flomen R H, Green E P, Green P M, Bentley D R, Giannelli F

机构信息

Paediatric Research Unit, United Medical School, Guy's Hospital, London Bridge, London, UK.

出版信息

Hum Mol Genet. 1993 Jan;2(1):5-10. doi: 10.1093/hmg/2.1.5.

DOI:10.1093/hmg/2.1.5

PMID:8490623

Abstract

The structure of the gene coding for iduronate sulphate sulphatase (IDS) has been determined. We have used exon to exon and vectorette PCR to identify 9 exons within the IDS gene and to characterise the surrounding intron sequences. The results of this study will be useful for the complete analysis of many mutations giving rise to Hunter syndrome. IDS is the first member of the group of lysosomal nonarylsulphatase genes for which the gene structure has been determined. It bears no relationship to the exon organisation of steroid sulphatase, despite the homology between these two proteins. This suggests that the division of the sulphatases into the two subgroups on the basis of substrate specificity is also reflected at the level of gene structure.

摘要

已确定艾杜糖醛酸硫酸酯酶（IDS）编码基因的结构。我们利用外显子对外显子和载体引物PCR技术，在IDS基因内鉴定出9个外显子，并对周围的内含子序列进行了特征分析。这项研究的结果将有助于全面分析导致亨特综合征的许多突变。IDS是溶酶体非芳基硫酸酯酶基因家族中第一个其基因结构已被确定的成员。尽管这两种蛋白质之间存在同源性，但它与类固醇硫酸酯酶的外显子组织没有关系。这表明，基于底物特异性将硫酸酯酶分为两个亚组的情况在基因结构水平上也有所体现。