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人结肠癌染色体1q杂合性缺失分析[J]. 肿瘤防治研究, 2011, 38(06): 658-662. DOI: 10.3971/j.issn.1000-8578.2011.06.013
引用本文: 人结肠癌染色体1q杂合性缺失分析[J]. 肿瘤防治研究, 2011, 38(06): 658-662. DOI: 10.3971/j.issn.1000-8578.2011.06.013
Loss of Heterozygosity on Chromosome 1q in Human Colon Carcinoma[J]. Cancer Research on Prevention and Treatment, 2011, 38(06): 658-662. DOI: 10.3971/j.issn.1000-8578.2011.06.013
Citation: Loss of Heterozygosity on Chromosome 1q in Human Colon Carcinoma[J]. Cancer Research on Prevention and Treatment, 2011, 38(06): 658-662. DOI: 10.3971/j.issn.1000-8578.2011.06.013

人结肠癌染色体1q杂合性缺失分析

Loss of Heterozygosity on Chromosome 1q in Human Colon Carcinoma

  • 摘要: 目的揭示人结肠癌1q杂合性缺失与临床病理特征的关系。方法应用15对微卫星标志结合PCR、聚丙烯酰胺凝胶电泳等技术检测人结肠癌染色体1q杂合性缺失。结果检测发现人结肠癌染色体1q至少1个位点存在杂合性缺失的占74.2%(69/93);平均缺失频率为17.7%,缺失频率较高的微卫星有D1S413、D1S305等,分别为34.62%、43.75%;缺失图谱分析显示常见缺失区域位于D1S2878~D1S2346(1q21.3~1q23.2)及D1S413~D1S249(1q31.3~1q32.1)之间。最小缺失区域为D1S413~D1S249,大约7.1cM的遗传距离。1q LOH (loss of heterozygosity, LOH)频率与癌细胞分化程度相关,低分化结肠癌的LOH频率显著高于高分化及中分化结肠癌(P<0.05)。结论人结肠癌染色体1q31.3 ~1q32.1及1q21.3~1q23.2区域频繁发生LOH,在这些区域附近可能存在与结肠癌相关的抑癌基因;结肠癌1q LOH率与癌细胞分化程度相关。

     

    Abstract: ObjectiveTo define the minimally lost regions(MLR) on chromosome 1q, and further to explore the molecular genetics alteration during the malignant progression of human colon mucosa. MethodsFifteen microsatellite markers were used and combined with PCR to detect the frequencies of LOH of every selected microsatellite site on chromosome 1q in colon carcinoma. Results Chromosome 1q LOH was identified in 69 of 93 colon carcinoma (74.2%). The LOH values in the D1S413 (34.62%) and D1S305 (43.75) were higher than that in other microsatellite markers. Through analyzing allelic loss mapping on chromosome 1q in colon carcinoma, we found that the common lost regions are between D1S2878~D1S2346(1q21.3~1q23.2) as well as D1S413~D1S249(1q31.3 ~1q32.1). The MLR was in D1S249~D1S413, which was about 7.1cM. A significant association was found between chromosome 1q LOH and histopathological grade, and the frequencies of LOH is the highest in poor differentiated colon carcinoma(P<0.05). ConclusionThere are high LOH frequency on the chromosome 1q31.3 ~1q32.1 and 1q21.3~1q23.2 in colon carcinoma. The result suggests these regions perhaps harbor putative tumor suppressor gene(s) contributing to tumorigenesis and differentiation in human colon carcinoma. The high frequency allelic loss on 1q is associated with colon carcinoma cell differentiation.

     

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