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甲状腺髓样癌患者RET原癌基因突变的研究

Investigation of RET proto-oncogene mutation in patients with medullary thyroid carcinoma

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【作者】 顾丽群赵咏桔马晓章英剑赵红燕戴蒙王丽华张连珍赵列宾宁光

【Author】 GU Li-qun~*, ZHAO Yong-ju, MA Xiao-ying, ZHANG Ying-jian, ZHAO Hong-yan, DAI Meng, WANG Li-hua, ZHANG Lian-zhen, ZHAO Lie-bin, NING Guang. ~*Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025

【机构】 上海第二医科大学附属瑞金医院内分泌代谢病科复旦大学附属肿瘤医院上海第二医科大学附属瑞金医院内分泌代谢病科 上海市内分泌代谢病临床中心上海市内分泌代谢病研究所 200025上海市内分泌代谢病临床中心上海市内分泌代谢病研究所 200025

【摘要】 目的研究甲状腺髓样癌(MTC)的RET原癌基因突变情况。方法从12例病理诊断的MTC患者和2例临床上怀疑MTC患者提取外周血基因组DNA,对RET原癌基因第10、11、16外显子进行PCR产物直接测序。结果发现8例患者存在基因突变。1例是第10外显子618密码子TGC/CGC突变;2例是第11外显子634密码子TGC/TAC突变;3例是634密码子TGC/CGC突变;2例是第16外显子918密码子ATG/ACG突变。结论直接基因测序分析能在基因水平诊断MTC,分子遗传学分析使术前诊断该疾病成为可能。

【Abstract】 Objective To detect the mutations of RET proto-oncogene in patients with medullary thyroid carcinoma (MTC). Methods Twelve patients with MTC confirmed by pathology and two clinically suspected patients were recruited. Total genomic DNA was extracted from peripheral blood for PCR. PCR products of exon 10, exon 11 and exon 16 of the RET proto-oncogene were purified and direct gene sequencing was performed. Results The genomic mutations were detected in 8 patients, in which direct gene sequencing analysis detected a mutation of TGC to CGC at codon 618 in exon 10 in 1 patient, a mutation of TGC to TAC at codon 634 in exon 11 in 2 cases, a mutation of TGC to CGC at codon 634 in exon 11 in 3 patients and a mutation of ATG to ACG at codon 918 in exon 16 in the remaiming 2 cases. Conclusion MTC can be diagnosed at gene level by direct gene sequencing analysis. It is possible to diagnose MTC before operation by means of molecular genetic analysis.

【基金】 上海市科委资助项目(24119054);上海市教委重点学科建设基金(2001年度);国家自然基金项目(30370666)
  • 【文献出处】 中华内分泌代谢杂志 ,Chinese Journal of Endocrinology and Metabolism , 编辑部邮箱 ,2004年04期
  • 【分类号】R736.1
  • 【被引频次】10
  • 【下载频次】215
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