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甲状旁腺肿瘤中RET原癌基因存在明显的mRNA和蛋白表达,但无突变。

Obvious mRNA and protein expression but absence of mutations of the RET proto-oncogene in parathyroid tumors.

作者信息

Kimura T, Yoshimoto K, Tanaka C, Ohkura T, Iwahana H, Miyauchi A, Sano T, Itakura M

机构信息

First Department of Internal Medicine, School of Medicine, The University of Tokushima, Japan.

出版信息

Eur J Endocrinol. 1996 Mar;134(3):314-9. doi: 10.1530/eje.0.1340314.

Abstract

The study on the expression of the RET proto-oncogene in parathyroid tumors disclosed obvious mRNA expression by the reverse transcription (RT)-polymerase chain reaction (PCR) method and protein expression by Western blotting. To find out whether mutations in the cysteine-rich regions or tyrosine kinase domain of the RET proto-oncogene are etiological for parathyroid tumorigenesis, sporadic parathyroid adenomas and carcinomas, parathyroid tumors from multiple endocrine neoplasia 1, familial isolated hyperparathyroidism or hereditary hyperparathyroidism-jaw tumor syndrome were screened by PCR-single strand conformation polymorphism and PCR restriction fragment length polymorphism. Missense mutations in the cysteine-rich region, or codons 768 or 918 in the tyrosine kinase domain of the RET proto-oncogene, were not detected in any of the examined cases of parathyroid tumors. These results suggest that mutations of the RET proto-oncogene do not represent a frequent mechanism of tumorigenesis for parathyroid tumors.

摘要

关于RET原癌基因在甲状旁腺肿瘤中表达的研究表明,通过逆转录(RT)-聚合酶链反应(PCR)方法可检测到明显的mRNA表达,通过蛋白质印迹法可检测到蛋白质表达。为了确定RET原癌基因富含半胱氨酸区域或酪氨酸激酶结构域的突变是否是甲状旁腺肿瘤发生的病因,采用PCR-单链构象多态性和PCR-限制性片段长度多态性方法对散发性甲状旁腺腺瘤和癌、多发性内分泌腺瘤1型的甲状旁腺肿瘤、家族性孤立性甲状旁腺功能亢进症或遗传性甲状旁腺功能亢进-颌骨肿瘤综合征的甲状旁腺肿瘤进行筛查。在所检测的任何甲状旁腺肿瘤病例中均未检测到RET原癌基因富含半胱氨酸区域或酪氨酸激酶结构域第768或918密码子的错义突变。这些结果表明,RET原癌基因的突变并非甲状旁腺肿瘤发生的常见机制。

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