Sakurai A, Shirahama S, Fujimori M, Katai M, Itakura Y, Kobayashi S, Amano J, Fukushima Y, Hashizume K
Department of Geriatrics, Endocrinology and Metabolism, Shinshu University School of Medicine, Matsumoto, Japan.
J Hum Genet. 1998;43(3):199-201. doi: 10.1007/s100380050070.
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.
最近，导致1型多发性内分泌肿瘤（MEN 1）的基因被分离出来，这使得对患有内分泌肿瘤的人和受影响患者的家庭成员进行直接基因诊断成为可能。尽管与高加索人群相比，MEN 1在日本人群中很少见，但我们之前曾报道过该疾病在一个有限区域（长野县；人口215万）的高患病率。在本报告中，我们报告了长野县家族中MEN1基因的突变情况。这些家族中不存在常见突变，这表明该地区MEN 1的高患病率并非源于共同祖先后代患者的区域聚集。这一结果意味着日本其他地区MEN 1的患病率可能也高于此前的认知。
