10号染色体上与2A型多发性内分泌腺瘤相关的遗传标记
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10.
作者信息
Mathew C G, Chin K S, Easton D F, Thorpe K, Carter C, Liou G I, Fong S L, Bridges C D, Haak H, Kruseman A C
出版信息
Nature. 1987;328(6130):527-8. doi: 10.1038/328527a0.
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, but the nature and location of the predisposing gene are unknown. Simpson et al. 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.
2A型多发性内分泌腺瘤病（MEN2A）是一种常染色体显性遗传癌症综合征，其特征为甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进。几乎所有基因携带者在40岁之前都可通过筛查检测出来，但易感基因的性质和位置尚不清楚。辛普森等人最近报告了10号染色体上的DNA探针p9 - 12A与MEN2A之间存在连锁关系的初步证据。我们现在报告MEN2A基因座与位于10号染色体p11.2 - q11.2的间质视黄醇结合蛋白基因之间存在连锁关系。
Zotero 插件