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[甲状旁腺功能亢进症中的染色体异常:比较基因组杂交技术在甲状旁腺增生研究中的应用]

[Chromosome abnormalities in hyperparathyroidism: utility of comparative genomic hybridization in the study of parathyroid hyperplasias].

作者信息

Afonso S, Cigudosa J C, Santamaría I, Otero A, Menárguez J, García Miranda J L

机构信息

Sección de Citogenética Hospital Universitario de Canarias Ofra, s/n. La Cuesta 38320 La Laguna, Santa Cruz de Tenerife, Islas Canarias.

出版信息

Nefrologia. 2003;23 Suppl 2:2-6.

Abstract

Genetic abnormalities responsible for primary (pHPT) and secondary hyperparathyroidism (sHPT) are not well described, especially those underlying the autonomous and refractory behaviour of glands from uremic patients with glandular hyperplasia and nodular growth. Comparative Genomic Hybridization (CGH) is a molecular cytogenetic technique based on a double-color in situ fluorescent analysis, allowing a global description of gains and losses of genomic material. It is a useful tool that localizes unstable genetic areas whose alteration could modify the expression of one or several genes related to the pathology in study. Results on primary hyperparathyroidism adenomas have shown a series of genetic changes correlating with areas where genes related to pHPT are located, such as MEN1 and cyclin D1. A large number of chromosomal aberrations in glands from patients with secondary hyperparathyroidism have also been found, and although some of them are common with those described for primary hyperparathyroidism, most of them are located in different areas or in a different proportion. These results confirm that although severe sHPT hyperplasias can evolve into neoplasias similar to pHPT adenomas, both parathyroid alterations must be considered, from a genetic point of view, as unrelated.

摘要

导致原发性甲状旁腺功能亢进症(pHPT)和继发性甲状旁腺功能亢进症(sHPT)的基因异常尚未得到充分描述,尤其是那些导致患有腺体增生和结节性生长的尿毒症患者的腺体出现自主性和难治性行为的基因异常。比较基因组杂交(CGH)是一种基于双色原位荧光分析的分子细胞遗传学技术,可全面描述基因组物质的增减情况。它是一种有用的工具,可定位不稳定的遗传区域,这些区域的改变可能会改变与所研究病理相关的一个或多个基因的表达。原发性甲状旁腺功能亢进症腺瘤的研究结果显示了一系列与pHPT相关基因所在区域相关的基因变化,如MEN1和细胞周期蛋白D1。继发性甲状旁腺功能亢进症患者的腺体中也发现了大量染色体畸变,尽管其中一些与原发性甲状旁腺功能亢进症中描述的畸变相同,但大多数位于不同区域或以不同比例存在。这些结果证实,尽管严重的sHPT增生可能演变成类似于pHPT腺瘤的肿瘤,但从遗传学角度来看,这两种甲状旁腺改变必须被视为不相关。

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