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人乳腺癌中缺失的位于11q23.1的1号杂合性缺失(LOH)区域的细化以及该细化区域内11个表达序列标签的亚定位。

Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region.

作者信息

di Iasio M G, Calin G, Tibiletti M G, Vorechovsky I, Benediktsson K P, Taramelli R, Barbanti-Brodano G, Negrini M

机构信息

Department of Molecular and Diagnostic Medicine, University of Ferrara, Italy.

出版信息

Oncogene. 1999 Feb 25;18(8):1635-8. doi: 10.1038/sj.onc.1202453.

Abstract

Loss of constitutive heterozygosity at 11q23 has been detected in various human solid tumors. Here, we described the analysis of a series of normal and tumor pairs from 110 breast carcinomas for the presence of loss of heterozygosity at 11q23 loci. The overall frequency of LOH was 48%, confirming the importance of deletions at 11q23 in breast tumorigenesis. Previously, we have identified two independent regions of LOH at 11q23, the LOH region 1 at 11q23.1 and the LOH region 2 at 11q23.3. The most telomeric region was recently refined between loci D11S1345 and D11S1316, a region of about 1 Mb. However, the LOH region 1, most centromeric, was still not finely refined: the boundaries were defined by loci D11S2000 and D11S897, separated by about 8 Mb. Here, we refined its boundaries between loci D11S1347 and D11S927, a region of about 2 Mb. We have mapped 11 expressed sequence tags (ESTs) within this region and excluded another 20. This study represents a further step toward the identification of the putative tumor suppressor gene found within the LOH region 1 at 11q23.1.

摘要

在多种人类实体瘤中均检测到11q23处组成型杂合性缺失。在此,我们描述了对110例乳腺癌的一系列正常组织与肿瘤组织配对样本进行分析,以检测11q23位点处杂合性缺失的情况。杂合性缺失的总体频率为48%,证实了11q23缺失在乳腺肿瘤发生中的重要性。此前,我们已在11q23处鉴定出两个独立的杂合性缺失区域,即11q23.1处的杂合性缺失区域1和11q23.3处的杂合性缺失区域2。最近,最末端区域在基因座D11S1345和D11S1316之间得到了更精确的界定,该区域约为1兆碱基。然而,最靠近着丝粒的杂合性缺失区域1仍未得到精确界定:其边界由基因座D11S2000和D11S897界定,二者相隔约8兆碱基。在此,我们将其边界精确到了基因座D11S1347和D11S927之间,该区域约为2兆碱基。我们已在该区域内定位了11个表达序列标签(EST),并排除了另外20个。这项研究朝着鉴定位于11q23.1处杂合性缺失区域1内的假定肿瘤抑制基因又迈进了一步。

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