MEN 203作为多态性DNA探针在筛查多发性内分泌肿瘤2a中的应用。

Application of MEN 203 as a polymorphic DNA probe in screening multiple endocrine neoplasia 2a.

作者信息

Kojima K, Totsuka Y

机构信息

Division of Endocrinology and Metabolism, Kanto Teishin Hospital, Tokyo, Japan.

出版信息

Endocrinol Jpn. 1991 Dec;38(6):583-7. doi: 10.1507/endocrj1954.38.583.

DOI:10.1507/endocrj1954.38.583

PMID:1688047

Abstract

Multiple endocrine neoplasia 2a (MEN 2a) is known to be genetically linked to a locus on chromosome 10. The application of polymorphic DNA probes for the region has made it possible to identify carriers of the disease susceptible gene. We performed DNA analysis for a newly found non-Caucasian MEN 2a family using MEN 203 as a probe. Data from DNA analysis of the family members were concordant with the results of conventional endocrinological tests. Furthermore, DNA analysis discriminated four individuals out of fifteen as non-carriers of the gene with a high degree of certainty. The results relieved these people from taking screening tests for years. DNA analysis employing suitable markers such as MEN 203 appears to be useful for a screening program of MEN 2a in Japanese as well as Caucasians.

摘要

多发性内分泌腺瘤病2a型（MEN 2a）已知与10号染色体上的一个基因座存在遗传联系。针对该区域的多态性DNA探针的应用使得识别疾病易感基因的携带者成为可能。我们使用MEN 203作为探针，对一个新发现的非高加索MEN 2a家族进行了DNA分析。家庭成员的DNA分析数据与传统内分泌学检测结果一致。此外，DNA分析高度确定地从15人中鉴别出4人不是该基因的携带者。这些结果使这些人多年来无需进行筛查检测。采用诸如MEN 203等合适标记的DNA分析对于日本人和高加索人的MEN 2a筛查项目似乎是有用的。