Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1

被引：0

作者：

A. Sakurai

Shuya Shirahama

Minoru Fujimori

Miyuki Katai

Yasunori Itakura

Shinya Kobayashi

Jun Amano

Yoshimitsu Fukushima

Kiyoshi Hashizume

机构：

[1] Department of Geriatrics,

[2] Endocrinology and Metabolism,undefined

[3] Shinshu University School of Medicine,undefined

[4] 3-1-1 Asahi,undefined

[5] Matsumoto 390-8621,undefined

[6] Japan Tel. +81-263-37-2686; Fax +81-263-37-2710 e-mail: bakabon @ gipac.shinshu-u.ac.jp,undefined

[7] Department of Surgery,undefined

[8] Shinshu University School of Medicine,undefined

[9] Matsumoto,undefined

[10] Japan,undefined

[11] Department of Hygiene and Medical Genetics,undefined

[12] Shinshu University School of Medicine,undefined

[13] Matsumoto,undefined

[14] Japan,undefined

[15] Division of Clinical Genetics,undefined

[16] Shinshu University Hospital,undefined

[17] Matsumoto,undefined

[18] Japan,undefined

[19] Center for Molecular Biology and Cytogenetics,undefined

[20] SRL Inc.,undefined

[21] Hino,undefined

[22] Japan,undefined

来源：

Journal of Human Genetics | 1998年 / 43卷

关键词：

Key words Multiple endocrine neoplasia type 1; Menin; Endocrine tumor; Mutation; Founder effect;

D O I：

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中图分类号：

学科分类号：

摘要：

The recent isolation of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1) has enabled direct genetic diagnosis for people with endocrine tumors and family members of affected patients. Although MEN 1 is rarely recognized in the Japanese population compared to its prevalence in Caucasians, we have previously reported a high prevalence of this disease in a limited area (Nagano Prefecture; population, 2.15 million). In this communication, we report mutations of the MEN1 gene in kindreds living in Nagano Prefecture. The absence of a common mutation among these kindreds indicates that the high prevalence of MEN 1 in this area is not due to a regional accumulation of patients descended from a common ancestor. This result implies that the prevalence of MEN 1 in other areas of Japan could also be higher than had been thought.

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页码：199 / 201

页数：2

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