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血液系统肿瘤中微卫星的遗传不稳定性。

Genetic instability of microsatellites in hematological neoplasms.

作者信息

Robledo M, Martinez B, Arranz E, Trujillo M J, Gonzalez Ageitos A, Rivas C, Benitez J

机构信息

Genetics Department, Fundación Jiménez Díaz, Madrid, Spain.

出版信息

Leukemia. 1995 Jun;9(6):960-4.

PMID:7596185
Abstract

Genetic instability has been recently related to point mutations on genes involved in DNA repair pathway of errors produced during replication. These molecular alterations have been described in hereditary and sporadic colon carcinomas and related tumors. To examine genetic instability on lympho- and myeloproliferative processes, we analyzed the behaviour of 10 microsatellite markers and one VNTR on different chromosomes in 10 patients with non-Hodgkin lymphomas (NHL), one patient with acute lymphoblastic leukemia (ALL) and 10 patients with acute myeloid leukemia (AML). Mobility shifts were found in three of those cases. One of them showed genetic instability for several markers--microsatellites and VNTR- and the other two showed differences for only one marker. As a correlation between point mutations in MSH2 gene and the presence of genetic instability in hereditary non-polyposis colon cancer (HNPCC) and related tumors has been found, we analyzed the sequence of a conversed region of this gene in the cases showing this phenomenon. We only found a polymorphism, previously described, in 669 codon from cDNA.

摘要

遗传不稳定性最近与参与复制过程中产生错误的DNA修复途径的基因上的点突变有关。这些分子改变已在遗传性和散发性结肠癌及相关肿瘤中得到描述。为了研究淋巴细胞和骨髓增殖过程中的遗传不稳定性,我们分析了10例非霍奇金淋巴瘤(NHL)患者、1例急性淋巴细胞白血病(ALL)患者和10例急性髓细胞白血病(AML)患者不同染色体上10个微卫星标记和1个可变数目串联重复序列(VNTR)的行为。在其中3例中发现了迁移率改变。其中1例对几个标记(微卫星和VNTR)表现出遗传不稳定性,另外2例仅对1个标记表现出差异。由于已发现错配修复基因2(MSH2)基因中的点突变与遗传性非息肉病性结肠癌(HNPCC)及相关肿瘤中遗传不稳定性的存在之间存在关联,我们分析了出现这种现象的病例中该基因一个保守区域的序列。我们仅在cDNA的669密码子中发现了一个先前描述过的多态性。

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