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通过分子方法鉴定错误标记的标本:病例报告与综述

Identification of mislabeled specimen by molecular methods: case report and review.

作者信息

Mariappan M Rajan, Zehnder James, Arber Daniel A, Lay Marla, Fadare Oluwole, Schrijver Iris

机构信息

Department of Pathology, Stanford University Medical Center, Stanford, CA 94305, USA.

出版信息

Int J Surg Pathol. 2005 Jul;13(3):253-8. doi: 10.1177/106689690501300304.

DOI:10.1177/106689690501300304
PMID:16086080
Abstract

Specimen misidentification is a common cause of errors in surgical pathology. We report a case where bone-marrow biopsies from patients of different genders were mislabeled and molecular methods were applied to resolve the identity. A short tandem repeat (STR)-polymerase chain reaction-based assay, commonly used in paternity testing, was employed in an attempt to assign the correct identity to the specimens. However, the specimens had been processed by decalcification and the DNA yield was poor. One of the markers in the assay is the non-STR amelogenin locus that distinguishes the X and Y chromosomes. This amelogenin marker results in a product of low molecular weight, enabling unequivocal resolution of identity despite a poor DNA yield. The prevalence of errors in pathology due to specimen misidentifications is reviewed.

摘要

标本误认是外科病理学中错误的常见原因。我们报告了一例不同性别的患者骨髓活检标本被错误标记的案例,并应用分子方法来确定其身份。一种常用于亲子鉴定的基于短串联重复序列(STR)-聚合酶链反应的检测方法被用来试图确定标本的正确身份。然而,标本已经经过脱钙处理,DNA产量很低。该检测方法中的一个标记是非STR牙釉蛋白基因座,它可以区分X和Y染色体。尽管DNA产量很低,但这种牙釉蛋白标记产生的产物分子量较低,能够明确地确定身份。本文回顾了由于标本误认导致的病理学错误的发生率。

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