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骨髓增生异常综合征中不存在N-ras和p53基因突变的同时发生。

No concomitant occurrence of the N-ras and p53 gene mutations in myelodysplastic syndromes.

作者信息

Mitani K, Hangaishi A, Imamura N, Miyagawa K, Ogawa S, Kanda Y, Yazaki Y, Hirai H

机构信息

Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Bunkyo-ku, Japan.

出版信息

Leukemia. 1997 Jun;11(6):863-5. doi: 10.1038/sj.leu.2400666.

Abstract

Mutations of the N-ras oncogene and p53 tumor suppressor gene were simultaneously investigated in bone marrow cells from 44 patients with myelodysplastic syndrome (MDS) or MDS-derived leukemia by single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing. The mutations of the N-ras gene were detected only in two cases with MDS-derived leukemia. Three patients with MDS-derived leukemia and one with refractory anemia with excess of blasts exhibited five mutations of the p53 gene. No concomitant mutations of both genes were observed in our study, suggesting that alterations of both genes could play an important role in the progression of MDS in a non-cooperative manner.

摘要

通过单链构象多态性(SSCP)分析并直接测序,同时研究了44例骨髓增生异常综合征(MDS)或MDS衍生白血病患者骨髓细胞中N-ras癌基因和p53肿瘤抑制基因的突变情况。仅在2例MDS衍生白血病患者中检测到N-ras基因突变。3例MDS衍生白血病患者和1例伴有过多原始细胞的难治性贫血患者出现了p53基因的5种突变。在本研究中未观察到两个基因的同时突变,这表明两个基因的改变可能以非协同方式在MDS的进展中起重要作用。

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