Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1

Kikuchi, Mariko; Ohkura, Naganari; Yamaguchi, Ken; Obara, Takao; Tsukada, Toshihiko

doi:10.1016/j.canlet.2003.10.011

Next »Cancer Letters
Volume 208, Issue 1 , Pages 81-88, 10 May 2004

Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1

Mariko Kikuchi
- Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
- Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
Naganari Ohkura
- Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
Ken Yamaguchi
- Growth Factor Division, National Cancer Center Research Institute, Tokyo, Japan
Takao Obara
- Department of Endocrine Surgery, Tokyo Women's Medical University, Tokyo, Japan
Toshihiko Tsukada
- Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
- Corresponding author. Tel.: +81-3-3542-2511x4305; fax: +81-3-3542-8170

Received 7 October 2003; accepted 7 October 2003.

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.