Suppr超能文献

将牛皮癣素基因S100A7精细定位于染色体1cen-q21。

Refined mapping of the psoriasin gene S100A7 to chromosome 1cen-q21.

作者信息

Børglum A D, Flint T, Madsen P, Celis J E, Kruse T A

机构信息

Department of Human Genetics, Aarhus University, Denmark.

出版信息

Hum Genet. 1995 Nov;96(5):592-6. doi: 10.1007/BF00197417.

Abstract

Psoriasin is a low molecular weight protein of the S100 family, which is highly upregulated in psoriatic epidermis, and whose function is related to skin inflammatory responses. We have applied a cDNA probe from the corresponding psoriasin gene S100A7 in a refined localisation analysis. S100A7 was mapped physically by human/rodent somatic cell hybrid analysis, and more precisely genetically by multilocus linkage analysis of 40 CEPH (Centre d'Etude du Polymorphisme Humain) families. The resulting 12-point linkage map was supported by odds of at least 1000:1, where S100A7 could be placed with a multipoint lodscore of 27.4 in an approximately 7-cM interval. The order of the 12 loci was as follows (with the best estimates of recombination frequencies given in between): AMY2B-0.091-D1S73(0.039)-D1S11(-0.053)-D1S189(-0 .017)-D1S1252 (-0.017)-D1S13(-0.078)-D1Z5(-0.051)-S100A7(-0.022)- MUC1(-0.026)-SPTA1 (-0.066)-ATP1A2(-0.014)-APOA2. Furthermore, from this map S100A7 could be assigned to the regional position of chromosome 1cen-q21. The linkage information presented should be of great value in association and linkage studies of diseases where psoriasin, or some of the several other very closely linked and functionally related genes, are seen as candidate genes, e.g. in psoriasis.

摘要

银屑素是S100家族的一种低分子量蛋白质,在银屑病表皮中高度上调,其功能与皮肤炎症反应相关。我们已将来自相应银屑素基因S100A7的cDNA探针应用于精细定位分析。通过人/啮齿动物体细胞杂交分析对S100A7进行了物理定位,并通过对40个CEPH(人类多态性研究中心)家族的多位点连锁分析更精确地进行了基因定位。所得的12点连锁图谱得到至少1000:1的优势比支持,其中S100A7可置于约7厘摩区间内,多点对数计分法得分为27.4。12个基因座的顺序如下(中间给出重组频率的最佳估计值):AMY2B - 0.091 - D1S73(0.039) - D1S11(-0.053) - D1S189(-0.017) - D1S1252 (-0.017) - D1S13(-0.078) - D1Z5(-0.051) - S100A7(-0.022) - MUC1(-0.026) - SPTA1 (-0.066) - ATP1A2(-0.014) - APOA2。此外,根据该图谱,S100A7可定位到染色体1cen - q21的区域位置。所呈现的连锁信息对于将银屑素或其他几个紧密连锁且功能相关的基因中的一些视为候选基因的疾病的关联研究和连锁研究应具有重要价值,例如在银屑病中。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验