多发性内分泌腺瘤病2A家系的RET原癌基因突变研究  

Detection of the mutation of RET proto-oncogene in a pedigree with multiple endocrine neoplasia 2 A

作　　者：顾丽群[1] 赵咏桔[1] 张连珍[1] 王琴琴[1] 马晓英[1] 陈惠敏[1] 宁光[1] 许曼音[1] 

机构地区：[1]上海第二医科大学瑞金医院内分泌科,上海200025

出　　处：《上海第二医科大学学报》2004年第2期88-90,共3页Acta Universitatis Medicinalis Secondae Shanghai

基　　金：上海市科委基金(24119054)

摘　　要：目的 检测一个多发性内分泌腺瘤病2A(MEN 2A)型家系的RET原癌基因突变情况。方法 提取16名家系成员外周血基因组DNA,对RET原癌基因第11外显子进行聚合酶链反应(PCR),PCR产物进行直接基因测序。结果 家系中1例病理确诊嗜铬细胞瘤的患者存在RET原癌基因第11外显子634密码子错义突变;另外筛查出2名家系成员为该突变基因携带者,其中1例经B超发现甲状腺结节性病灶伴血清降钙素升高。结论 MEN 2A的诊断达到了基因水平,对家系基因筛查可以早期诊断该疾病。Objective To detect the mutations of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia 2A( MEN 2A) . Methods Sixteen family members were recruited to this study. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction ( PCR) . PCR products of exon 11 of the RET proto-oncogene were purified and a direct gene sequence analysis was performed. Results A missense mutation of TGC(Cys) to TAC(Tyr) at codon 634 in exon 11 of the RET proto-oncogene was detected in a patient with pheochromocytoma diagnosed by pathology. Genetic screening identified the same mutation in other 2 family members. Ultrasonographic examination revealed a member with thyroid nodule and elevated calcitonin. Conclusion We can diagnose MEN 2A at the gene level. Genetic screening makes it possible to diagnose the disease in an earlier period.

关 键 词：多发性内分泌腺瘤病2A RET原癌基因 突变 嗜铬细胞瘤 甲状腺髓样癌 

分 类 号：R736[医药卫生—肿瘤]