Mailman M D, Muscarella P, Schirmer W J, Ellison E C, O'Dorisio T M, Prior T W
Department of Pathology, The Ohio State University College of Medicine, Columbus 43210, USA.
Clin Chem. 1999 Jan;45(1):29-34.
Gastrinomas and other gastrointestinal neuroendocrine tumors may occur sporadically or as part of the inherited syndrome multiple endocrine neoplasia type 1 (MEN1). Mutations in the recently identified MEN1 gene have been described in sporadic gastrinomas and insulinomas. This study describes techniques used to identify mutations in the MEN1 gene in DNA extracted from paraffin-preserved tissue. Two novel mutations are identified in the MEN1 gene from nine archived paraffin-embedded neuroendocrine tumors, demonstrating that retrospective genetic analysis can be used to identify mutations in the MEN1 gene from preserved tissue. Conditions are provided by which paraffin-embedded tissue can be used as a source of genetic material for sequence information of sufficient quality for mutational studies of the MEN1 gene. It should also be possible to apply this retrospective genetic analysis of paraffin-embedded tissue to other disease models.
胃泌素瘤和其他胃肠道神经内分泌肿瘤可能散发出现，或作为遗传性综合征1型多发性内分泌腺瘤病（MEN1）的一部分出现。在散发的胃泌素瘤和胰岛素瘤中已发现最近确定的MEN1基因发生突变。本研究描述了用于从石蜡包埋组织中提取的DNA中鉴定MEN1基因突变的技术。在9个存档的石蜡包埋神经内分泌肿瘤的MEN1基因中鉴定出两个新突变，表明回顾性基因分析可用于从保存的组织中鉴定MEN1基因的突变。本文提供了一些条件，在这些条件下，石蜡包埋组织可作为遗传物质的来源，用于获取质量足以进行MEN1基因突变研究的序列信息。将石蜡包埋组织的这种回顾性基因分析应用于其他疾病模型也应该是可行的。
