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内分泌肿瘤中的RAS突变:通过聚合酶链反应-单链构象多态性检测突变

ras mutations in endocrine tumors: mutation detection by polymerase chain reaction-single strand conformation polymorphism.

作者信息

Yoshimoto K, Iwahana H, Fukuda A, Sano T, Katsuragi K, Kinoshita M, Saito S, Itakura M

机构信息

Otsuka Department of Clinical and Molecular Nutrition, School of Medicine, University of Tokushima.

出版信息

Jpn J Cancer Res. 1992 Oct;83(10):1057-62. doi: 10.1111/j.1349-7006.1992.tb02722.x.

Abstract

To elucidate the molecular basis for endocrine tumorigenesis, ras mutations in human endocrine tumors were analyzed using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. Mutations of the H-, K-, N-ras genes were examined in genomic DNAs from 169 successfully amplified primary endocrine tumors out of 189 samples. Four out of 24 thyroid follicular adenomas analyzed contained mutated N-ras codon 61, and one contained the mutated H-ras codon 61. One of the 19 pheochromocytomas revealed mutation of the H-ras codon 13. No mutations of the ras gene were detected in pituitary adenomas, parathyroid tumors, thyroid cancers, endocrine pancreatic tumors, and adrenocortical tumors. Based on these findings we conclude that activation of the ras gene may play a role in the tumorigenesis of a limited number of thyroid follicular adenomas and pheochromocytomas, and that mutation of the ras gene is not frequent in other human endocrine tumors.

摘要

为阐明内分泌肿瘤发生的分子基础,我们采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析法对人类内分泌肿瘤中的ras基因突变进行了分析。在189份样本中,对169例成功扩增的原发性内分泌肿瘤的基因组DNA检测了H-、K-、N-ras基因的突变情况。在分析的24例甲状腺滤泡性腺瘤中,有4例含有N-ras基因第61密码子突变,1例含有H-ras基因第61密码子突变。19例嗜铬细胞瘤中有1例显示H-ras基因第13密码子突变。在垂体腺瘤、甲状旁腺肿瘤、甲状腺癌、内分泌胰腺肿瘤和肾上腺皮质肿瘤中未检测到ras基因突变。基于这些发现,我们得出结论,ras基因的激活可能在少数甲状腺滤泡性腺瘤和嗜铬细胞瘤的肿瘤发生中起作用,并且ras基因的突变在其他人类内分泌肿瘤中并不常见。

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