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炎症性肠病与3号、7号、12号和16号染色体上特定基因座之间不存在连锁关系。

Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16.

作者信息

Rioux J D, Daly M J, Green T, Stone V, Lander E S, Hudson T J, Steinhart A H, Bull S, Cohen Z, Greenberg G, Griffiths A, McLeod R, Silverberg M, Williams C N, Siminovitch K A

机构信息

Whitehead Institute/Massachusetts Institute of Technology Center for Genome Research, Cambridge, Massachusetts, USA.

出版信息

Gastroenterology. 1998 Nov;115(5):1062-5. doi: 10.1016/s0016-5085(98)70074-5.

Abstract

BACKGROUND & AIMS: Linkage data derived from genome-wide scans of inflammatory bowel disease (IBD) sibling-pair families have identified 4 loci on chromosomes 3, 7, 12, and 16 as potential sites for IBD susceptibility genes. The aim of this study was to investigate whether linkage analysis of another independently collected set of sibling pairs with IBD would provide further evidence of linkage between these previously reported loci and IBD.

METHODS

Using the MAPMAKER/SIBS program, the segregation of 21 microsatellite marker loci spanning the 4 putative IBD gene loci was analyzed in a study population comprising 161 families with 114 Crohn's disease, 36 ulcerative colitis, and 50 mixed IBD sibling pairs from the Greater Toronto area.

RESULTS

The results of multipoint linkage analysis showed no evidence for linkage between IBD and each of the 21 marker loci studied; the logarithm of odds scores in all instances were less than 0.8. These linkage data were found, by exclusion mapping analysis, to exclude values of lambdas ranging from 1.5 to 3.0, depending on the locus evaluated.

CONCLUSIONS

The loci previously suggested as representing IBD susceptibility loci are not linked to IBD in the Toronto population examined in this analysis.

摘要

背景与目的

来自炎症性肠病(IBD)同胞对家族全基因组扫描的连锁数据已确定3号、7号、12号和16号染色体上的4个位点为IBD易感基因的潜在位点。本研究的目的是调查另一组独立收集的IBD同胞对的连锁分析是否会为这些先前报道的位点与IBD之间的连锁提供进一步证据。

方法

使用MAPMAKER/SIBS程序,在一个研究人群中分析了跨越4个假定IBD基因位点的21个微卫星标记位点的分离情况,该研究人群包括来自大多伦多地区的161个家庭,其中有114对克罗恩病、36对溃疡性结肠炎和50对混合型IBD同胞对。

结果

多点连锁分析结果显示,在所研究的21个标记位点中,没有证据表明IBD与其中任何一个位点存在连锁;所有情况下的优势对数得分均小于0.8。通过排除定位分析发现,这些连锁数据排除了λ值在1.5至3.0之间的情况,具体取决于所评估的位点。

结论

在本分析中所研究的多伦多人群中,先前被认为代表IBD易感位点的位点与IBD不连锁。

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