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| 散发性嗜铬细胞瘤患者RET原癌基因突变检测 | |
| 引用本文： | 韩战营,邱春光,陈庆华,祝宇,朱鼎良. 散发性嗜铬细胞瘤患者RET原癌基因突变检测[J]. 中华医学遗传学杂志, 2006, 23(3): 320-322 |
| 作者姓名： | 韩战营 邱春光 陈庆华 祝宇 朱鼎良 |
| 作者单位： | 1. 200025,上海交通大学医学院附属瑞金医院,上海市高血压研究所;郑州大学第一附属医院心内科 2. 郑州大学第一附属医院心内科 3. 200025,上海交通大学医学院附属瑞金医院,上海市高血压研究所 |
| 基金项目： | 国家973计划资助项目（2004CB518603） |
| 摘 要： | 目的在嗜铬细胞瘤散发患者中进行RET原癌基因突变筛查。方法收集42例病理诊断确诊为嗜铬细胞瘤的患者基因组DNA，其中12例为外周血基因组DNA，30例为嗜铬细胞瘤病理切片组织中提取的基因组DNA。对RET原癌基因第10和第11外显子，采用DNA测序技术进行基因突变筛查。结果在42例中，2例在RET基因的第11外显子存在基因突变。1例634位密码子由TGC突变为TAC，另1例632位密码子由GAG突变为AAG。结论在嗜铬细胞瘤患者中存在RET原癌基因突变携带者，有必要对散发的嗜铬细胞瘤患者进行RET原癌基因的常规突变筛查。 |
| 关 键 词： | 嗜铬细胞瘤 RET原癌基因 突变 |
| 收稿时间： | 2005-10-19 |
| 修稿时间： | 2005-10-19 |
Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma |
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| HAN Zhan-ying,QIU Chun-guang,CHEN Qing-hua,ZHU Yu,ZHU Ding-liang. Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma[J]. Chinese journal of medical genetics, 2006, 23(3): 320-322 | |
| Authors: | HAN Zhan-ying QIU Chun-guang CHEN Qing-hua ZHU Yu ZHU Ding-liang |
| Affiliation: | 1. Shanghai lnstitute of Hypertension, Ruijiin Hospital, Medical College, Shanghai Jiaotong University, Shanghai ,200025 P. R. China;2. of Cardiology, the First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan, 450052 P.R. China |
| Abstract: | OBJECTIVE: To screen the mutations of RET proto-oncogene in sporadic patients with pheochromocytoma. METHODS: Forty-two cases of sporadic pheochromocytoma were tested for mutations of RET gene. Of these 42 DNA samples, 12 were extracted from peripheral blood cells and 30 from paraffin-embedded pheochromocytoma specimens. The PCR product of exon 10 and exon 11 was used to molecular analysis of the RET proto-oncogene. RESULTS: Among 42 patients, 2 were found to have RET gene mutations. One of mutations located at codon 634 (TGC>TAC) in exon 11 of RET proto-oncogene. Another one located at codon 632 (GAG>AAG). CONCLUSION: Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients. |
| Keywords: | pheochromocytoma RET proto-oncogene mutation |
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