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.
Multiple endocrine neoplasia type 1 (MEN 1) is rarely reported in Japanese and other oriental populations. To examine if there is a racial difference in the prevalence of MEN 1, we initiated extensive work on patients with endocrine tumors for additional lesions, and annual screening of family members of affected patients. In a four-year study, eleven asymptomatic patients were found by family screening, and the number of patients with MEN 1 in our clinics increased from 16 to 38. Estimated prevalence of MEN 1 was no less than 0.018/1000. MEN 1 may not be as rare as had been thought in Japanese, and the prevalence of MEN 1 in Japanese would not be significantly different from that of Caucasians. Systemic surveillance and extensive screening of family members are required for early detection and management of patients.
Ten Japanese families with hereditary multiple endocrine neoplasia type 1 (MEN1) were examined. Five DNA polymorphic markers on the long arm of chromosome 11 were analyzed for genetic screening of MEN1 in members of affected families, and disease carriers were identified before clinical manifestations. Unlike MEN1 families in Newfoundland or in Tasmania, no consistent haplotypes were segregated with the disease in the Japanese families when defined by 5 nearby markers. The identification of asymptomatic disease carriers is of substantial clinical importance for early management, genetic counseling and to avoid unnecessary screening for non‐disease carriers. However, genetic screening of family members by polymorphic markers could be useful only to each family, and no generally applicable markers were found for Japanese subjects with MEN1.
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