A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
复制标题
10 号染色体上 2A 型多发性内分泌肿瘤的连锁遗传标记
作者：
C. Mathew;K. Chin;D. Easton;K. Thorpe;C. Carter;G. Liou;S. Fong;C. Bridges;H. Haak;A. Kruseman;S. Schifter;H. H. Hansen;H. Telenius;M. Telenius‐Berg;B. Ponder
多发性内分泌瘤2A型（MEN 2A）是一种常染色体显性遗传的癌症综合征，以甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进为特征。几乎所有的基因携带者都可以在40岁之前通过筛查检测出来（参考文献1），但易感基因的性质和位置尚不清楚。Simpson等2最近报道了10号染色体上的DNA探针p9- 12 A与MEN 2A之间连锁的初步证据。我们现在报告MEN 2A位点和间质性视黄醇结合蛋白基因之间的连锁，该基因位于染色体10p11.2-q11.2（参考文献3）。
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and hyperparathyroidism. Almost all gene carriers can be detected by screening tests before the age of 40 (ref. 1), but the nature and location of the predisposing gene are unknown. Simpson et al.2 recently reported preliminary evidence for linkage between the DNA probe p9-12A on chromosome 10 and MEN2A. We now report linkage between the MEN2A locus and the interstitial retinol-binding protein gene, which is located on chromosome 10p11.2-q11.2 (ref. 3).