Mutation Study Of Oncogene In Multiple Endocrine Neoplasia And Hyperparathyroidism Kindreds

Part 1: Germline Mutation Study of men1 Gene in Multiple EndocrineNeoplasia Type 1 and Hyperparathyroidism KindredsObjectives Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant familial disorder characterized by combined occurrence of tumors of parathyroid glands, enteropancreatic endocrine tissues, and the anterior pituitary. Hyperparathyroidism(HPT), present in 90 to 97% of MENl carriers, is usually the earliest and common manifestation of endocrine glands, some MEN1 families present as HPT only and no other endocrine glands were involved; in addition, when a family history is uncertain and other endocrine manifestations are not fully penetrated, it's difficult to identify a MENl patients in clinical practice.Familial isolated HPT (FIHP)is a familial occurrence of HPT and no other endocrine glands are involved, it may be a prelude to typical MEN1, an atypical expression of MEN1, a distinctive variant from MEN1 mutation, or a phenocopy caused by mutation in a different gene, the exact causes remain uncertain.Germline mutational analysis was taken for menl gene with the aim of (1) clarifying the genotype of these MENl pedigrees. (2) clarifying if the FIHP family have menl gene mutation. (3)the clinical value of menl gene germline mutational analysis.Subjects and Methods24 cases and their relatives and 75 controls were enrolled in the study, including 4 unrelated MEN1 probands and 5 relatives, 13 members of a FIHP kindred, and 2 HPT cases, one is a 57-year old female with 4 times parathyroidectomy because of HPT of parathyroid hyperplasia, the other one is a 37-year old female with a familial history of encephaloma.Genome DNA was extracted from peripheral blood leucocytes and used with the...