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多发性内分泌腺瘤病(MEN)的遗传学

The genetics of multiple endocrine neoplasia (MEN).

作者信息

Calender A, Schuffenecker I, Lenoir G M

机构信息

Laboratory of Genetics, Edouard Herriot Hospital, Lyon, France.

出版信息

Horm Res. 1992;38 Suppl 2:16-23. doi: 10.1159/000182587.

Abstract

Multiple Endocrine Neoplasia (MEN) refers to the family of diseases characterized by hyperplasia and/or tumoral proliferation in various organs derived from the neural crest. MEN are transmitted in an autosomal dominant fashion in affected pedigrees with a high degree of penetrance. MEN 1 and MEN 2A/B loci have recently been mapped, respectively, to chromosomes 11 and 10 by linkage analysis using polymorphic DNA markers. These discoveries will lead (1) to a rapid understanding of the physiopathological pathway determining such syndromes and (2) to major clinical impact through the genetic screening.

摘要

多发性内分泌肿瘤(MEN)是指一类以神经嵴来源的多个器官增生和/或肿瘤性增殖为特征的疾病。MEN在受累家系中以常染色体显性方式遗传,具有高度的外显率。最近通过使用多态性DNA标记进行连锁分析,分别将MEN 1和MEN 2A/B基因座定位到了11号和10号染色体上。这些发现将带来以下两点成果:(1)快速了解决定此类综合征的生理病理途径;(2)通过基因筛查产生重大临床影响。

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