Farmer M, Hunt L, Eichenberger M R, Petras R E, Janosky J E, Galandiuk S
Department of Surgery, University of Louisville, Kentucky 40292, USA.
Dig Dis Sci. 2001 Mar;46(3):632-6. doi: 10.1023/a:1005623904826.
A susceptibility locus for inflammatory bowel disease (IBD) on chromosome 16 (IBD1) has been linked to Crohn's disease in genome-wide linkage studies. We performed a case-control study with two markers for this locus using leukocyte DNA from 127 Crohn's patients, 83 ulcerative colitis patients, and 74 control patients. Allele, genotype, and haplotype frequencies of the polymerase chain reaction products were determined using autoradiography. Haplotype frequencies differed for ulcerative colitis and Crohn's disease, particularly for haplotype CC (22% ulcerative colitis vs 10% Crohn's disease, P = 0.002 Chi2 = 10.0) and haplotype CD (18% Crohn's disease vs 9% ulcerative colitis, P = 0.025 Chi2 = 5.02). These data demonstrate the association of the IBD1 locus with both ulcerative colitis and Crohn's disease in a group of unrelated IBD patients. The use of such microsatellite markers when combined with others, might help distinguish ulcerative colitis from Crohn's disease in patients with ambiguous clinical and histological features.
在全基因组连锁研究中，16号染色体上的炎症性肠病（IBD）易感基因座（IBD1）已与克罗恩病相关联。我们使用来自127例克罗恩病患者、83例溃疡性结肠炎患者和74例对照患者的白细胞DNA，对该基因座的两个标记进行了病例对照研究。使用放射自显影法测定聚合酶链反应产物的等位基因、基因型和单倍型频率。溃疡性结肠炎和克罗恩病的单倍型频率不同，特别是单倍型CC（溃疡性结肠炎为22%，克罗恩病为10%，P = 0.002，卡方 = 10.0）和单倍型CD（克罗恩病为18%，溃疡性结肠炎为9%，P = 0.025，卡方 = 5.02）。这些数据表明，在一组无亲缘关系的IBD患者中，IBD1基因座与溃疡性结肠炎和克罗恩病均相关。当与其他标记结合使用时，此类微卫星标记可能有助于在临床和组织学特征不明确的患者中区分溃疡性结肠炎和克罗恩病。
