MEN1基因突变所致多内分泌腺瘤病1型二例及其家系研究

目的 探讨多内分泌腺瘤病1型的发病与MEN1基因突变的相互关系及其遗传特征。方法 从2个家系中的患者及其家庭成员抽提外周血淋巴细胞基因组DNA，运用PCR、DNA测序分析技术检测MEN1基因所有10个外显子，进一步用亚克隆测序鉴定其杂合性。结果发现两个家系中的先证者MENI基因均在第二号外显子存在杂合突变，分别为372-373insACCTGTCTATCATCGCCG和357-360delCTGT，前一种突变为一种新的突变类型。结论 在2个多内分泌腺瘤病1型中国人家系检出2种MEN1基因突变，其中MEN1基因372-373insACCTGTCTATCATCGCCG为一种新的MEN1基因突变。

Two cases of MEN1 gene mutation-induced multiple endocrine neoplasia type 1 and analysis of their pedigrees

Objective To determine the relationship between MEN1 gene mutations and occurrence of multiple endocrine neoplasia type 1 and their inherited characteristics. Methods Genomic DNA was extracted from the peripheral blood lymphocytes of patients and other family members. PCR was performed to amplify all 10 exons of MEN1 gene. The PCR products were directly sequenced. Subclone sequencing was performed to identify the heterozygosity. Results An 18 base pairs of insertion(372-373 insACCTGTCTATCATCGCCG) was identified in one family and a 4 base pairs of deletion (357-360delCTGT) in the other family, both mutations occurred in exon 2 of MEN1 gene in the patients, and the former was a new mutation. Conclusion The MEN1 gene mutations were identified in two Chinese families with multiple endocrine neoplasia type 1, in one of which a novel mutation of MEN1 gene (372-373insACCTGTCTATCATCGCCG) was detected.