多发性内分泌腺瘤病IIa型的连锁与染色体研究

Linkage and chromosome study of multiple endocrine neoplasia IIa.

作者信息

Emmertsen K, Lamm L U, Rasmussen K Z, Elbrønd O, Hansen H H, Henningsen K, Jørgensen J, Petersen G B

出版信息

Cancer Genet Cytogenet. 1983 Jul;9(3):251-9. doi: 10.1016/0165-4608(83)90009-2.

Abstract

A linkage and chromosome investigation of a large family with multiple endocrine neoplasia (MEN) IIa (medullary thyroid carcinoma, pheochromocytoma, and occasionally hyperparathyroidism) was undertaken. No significantly positive lodscores were obtained between MEN IIa and 25 different genetic markers. Conventional metaphase chromosome analysis showed normal karyotypes and no heterochromatin markers linked to the MEN IIa locus were found. High-resolution chromosome analysis in five MEN IIa carriers revealed no deletion within band 20p12.2. The present investigation could thus neither demonstrate linkage of the MEN IIa locus to genetic or chromosome markers nor identify chromosome abnormalities in MEN IIa carriers.

摘要

对一个患有多发性内分泌腺瘤病（MEN）IIa型（甲状腺髓样癌、嗜铬细胞瘤，偶尔还有甲状旁腺功能亢进）的大家族进行了连锁和染色体研究。在MEN IIa型与25种不同的遗传标记之间未获得显著的阳性连锁值。传统的中期染色体分析显示核型正常，未发现与MEN IIa位点连锁的异染色质标记。对5名MEN IIa型携带者进行的高分辨率染色体分析显示，20p12.2带内无缺失。因此，本研究既未能证明MEN IIa位点与遗传或染色体标记的连锁关系，也未能识别出MEN IIa型携带者的染色体异常情况。