Objective:To analyze the clinical characters of six patients of multiple endocrine neoplasia type 1 (MEN1)and their family members and investigate the features of MEN1 gene mutation in these families. Methods:Clinical data of MEN1 patients and their family members was collected. Genomic DNA was extracted from peripheral blood of six patients and their respective family members (thirteen in total),then the 9 exons in coding sequences of MEN1 gene was amplified by PCR and subjected to direct sequencing. Results:We detected a heterozygous mutation within exon 10 (c.1378C>T)in two patients and two relatives in pedigree 1,a heterozygous mutation within exon 2 (c.80C>G)in one of patients in pedigree 2 and a heterozygous mutation within exon 9(c.1225T>C)in the proband and her mother in pedigree 3,respectively. No mutation was found in other patients or relatives. The detected c.80C>G and c.1225T>C were two novel types of MEN1 mutation,while the mutation of c.1378C>T in MEN1 gene was already known. Conclusion:Analysis of MEN1 gene mutation contributes to early diagnosis of MEN1 patients and screening of family members. The two novel types of MEN1 gene mutation in this study may increase our knowledge concerning genetic feature of MEN1.