title: Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1.
abstract: A deleted genomic region including the MEN1 gene was determined in a family with multiple endocrine neoplasia type 1 caused by a large germline deletion. Gene dose mapping by the modified gene dose assay technique roughly located the deletion end points, which were then precisely determined by nucleotide sequencing. The deletion was approximately 68kbp flanked by a 3-base pair repeat and included the whole MEN1, MAP4K2 and KAPPA-200 genes. This is the first case of a large germline deletion responsible for multiple endocrine neoplasia type 1, in which the size and end points were determined precisely.
authors.affiliation: Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Kikuchi
authors.forename: Naganari
authors.initials: N
authors.lastname: Ohkura
authors.forename: Ken
authors.initials: K
authors.lastname: Yamaguchi
authors.forename: Takao
authors.initials: T
authors.lastname: Obara
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Tsukada
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D017931:DNA Primers / Q000737:chemistry; D005190:Family; D005260:Female; D018628:Gene Dosage; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D020930:MAP Kinase Kinase Kinases / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D017931:DNA Primers; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D020930:MAP Kinase Kinase Kinases