MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 GENE MAPS TO CHROMOSOME-11 AND IS LOST IN INSULINOMA
MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 GENE MAPS TO CHROMOSOME-11 AND IS LOST IN INSULINOMA
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DOI：
10.1038/332085a0
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发表时间：
1988-03-03
期刊：
影响因子：
64.8
通讯作者：
NORDENSKJOLD, M
中科院分区：
文献类型：
--
作者：
LARSSON, C;SKOGSEID, B;NORDENSKJOLD, M
多发性内分泌瘤1型（MEN-1）是一种易患甲状旁腺增生、垂体前叶和内分泌胰腺增生或肿瘤的疾病，是常染色体显性遗传1。在此，我们通过家系研究将MEN-1基因定位于11号染色体，并证明与人类肌肉磷酸化酶基因紧密连锁。通过比较一对从母亲遗传MEN-1的兄弟的胰岛素瘤的体质和肿瘤组织基因型，我们已经表明，在这些情况下，肿瘤发生涉及在这个位点的隐性突变的揭露。
Multiple endocrine neoplasia type 1 (MEN-1) is a predisposition to hyperplasia of the parathyroid glands, and to hyperplasia or tumours of the anterior pituitary and the endocrine pancreas, and is inherited as an autosomal dominant trait1. Here we map theMEN-1 locus to chromosome 11 by family studies, and demon-strate tight linkage with the human muscle phosphorylase gene. By comparing constitutional and tumour tissue genotypes of insulinomas from a pair of brothers who had inherited MEN-1 from their mother, we have shown that oncogenesis in these cases involves unmasking of a recessive mutation at this locus.