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脂肪肉瘤中12q13 - 22扩增子的复杂性:微卫星重复序列分析

Complexity of 12q13-22 amplicon in liposarcoma: microsatellite repeat analysis.

作者信息

Wolf M, Aaltonen L A, Szymanska J, Tarkkanen M, Blomqvist C, Berner J M, Myklebost O, Knuutila S

机构信息

Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

出版信息

Genes Chromosomes Cancer. 1997 Jan;18(1):66-70. doi: 10.1002/(sici)1098-2264(199701)18:1<66::aid-gcc8>3.0.co;2-#.

Abstract

The 12q13-22 amplicon from four liposacroma specimens evaluated by comparative genomic hybridization was studied analyzing 55 microsatellite markers by PCR. All four specimens were informative in at least 34 loci; an amplification or allelic imbalance was identified with four to 17 markers. The amplicons were discontinuous; there were non-amplified marker loci between the amplified marker loci. These findings indicate the presence of separate amplicons in the 12q13-22 region. Evidence of the concomitant gain of one allele and loss of the other allele was found with several markers in one tumor and with one marker in two tumor specimens. Southern blotting showed amplification of CDK4 and MDM2 in all four specimens.

摘要

通过比较基因组杂交对4个脂肪肉瘤标本的12q13 - 22扩增子进行研究,采用聚合酶链反应(PCR)分析55个微卫星标记。所有4个标本在至少34个位点具有信息性;用4至17个标记鉴定出扩增或等位基因不平衡。扩增子是不连续的;在扩增的标记位点之间存在未扩增的标记位点。这些发现表明在12q13 - 22区域存在单独的扩增子。在一个肿瘤中的几个标记以及两个肿瘤标本中的一个标记发现了一个等位基因获得而另一个等位基因缺失的伴随证据。Southern印迹显示所有4个标本中CDK4和MDM2均有扩增。

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