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p53基因的突变及其与B细胞淋巴瘤疾病进展的关系。

Mutations of p53 gene and their relation to disease progression in B-cell lymphoma.

作者信息

Ichikawa A, Hotta T, Takagi N, Tsushita K, Kinoshita T, Nagai H, Murakami Y, Hayashi K, Saito H

机构信息

First Department of Internal Medicine, Nagoya University School of Medicine, Japan.

出版信息

Blood. 1992 May 15;79(10):2701-7.

PMID:1375111
Abstract

The alteration of p53 tumor suppressor gene was studied in 48 patients with B-cell lymphoma. A sequential combined technique of polymerase chain reaction-mediated single-strand conformational polymorphism (PCR-SSCP) or reverse transcription (RT)-PCR-SSCP and direct sequencing were used as a simple and sensitive approach to analyze nucleotide changes. By these methods, we identified 8 missense point mutations and 2 codon deletions in 9 of the 48 patients. These mutations were located in or close to the evolutionally highly conserved regions of the p53 gene. Eight of nine patients having p53 gene alterations were in advanced clinical stage (IV). It is the first report of p53 gene mutations in follicular and diffuse lymphoma. These observations suggest that the p53 gene alteration may play an important role in lymphomagenesis and/or disease progression in some types of B-cell lymphoma.

摘要

对48例B细胞淋巴瘤患者的p53抑癌基因改变进行了研究。采用聚合酶链反应介导的单链构象多态性(PCR-SSCP)或逆转录(RT)-PCR-SSCP与直接测序相结合的连续技术,作为分析核苷酸变化的简单而灵敏的方法。通过这些方法,我们在48例患者中的9例中鉴定出8个错义点突变和2个密码子缺失。这些突变位于p53基因进化上高度保守的区域内或附近。9例p53基因改变的患者中有8例处于临床晚期(IV期)。这是滤泡性和弥漫性淋巴瘤中p53基因突变的首次报道。这些观察结果表明,p53基因改变可能在某些类型的B细胞淋巴瘤的淋巴瘤发生和/或疾病进展中起重要作用。

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