多发性内分泌腺瘤病1型患者基因突变分析

Analysis of MEN1 gene in two cases of multiple endocrine neoplasia type 1

目的研究多发性内分泌腺瘤病1型(MEN1)患者的基因突变情况。方法收集2007-09-10和2008-08-22中国医科大学附属第一医院2例MEN1患者资料。以外周血基因组DNA为模板,运用聚合酶链式反应(PCR)、DNA测序分析技术检测MEN1基因全部编码区的第2～10号外显子。结果1例患者的MEN1基因10号外显子内存在杂合突变,为c.1378C>T(Arg460Ter);另1例患者的MEN1基因所有编码区均未发现异常。结论MEN1基因突变c.1378C>T(Arg460Ter)亦为中国MEN1致病基因突变类型之一。

Objective To study the MEN1 gene mutation in two cases of multiple endocrine neoplasia type 1. Methods Genomic DNA was extracted from the peripheral blood lymphocytes of patients. PCR was performed to amplify 9 exons of MEN1 gene. The PCR products were directly sequenced. Results A heterozygote C to T teansition was detected in e. 1378 within exon 10 in one patient;No mutation was found in the entire MEN1 gene coding region of the other patient. Conclusion The mutation of c. 1378C 〉 T（Arg460Ter） in MEN1 gene is one type of MEN gene mutations in China.