短串联重复序列（STR）基因分型在部分性葡萄胎中的应用。
Application of short tandem repeat (STR) genotyping in partial hydatidiform mole.
作者信息
Meng Yiting, Yang Xi, Yin Hongfang
机构信息
Department of Pathology, Beijing Tsinghua Chang Gung Hospital, School of Clinical Medicine, Tsinghua University Beijing 102218, China.
Department of Gynecology and Obstetrics, Beijing Tsinghua Chang Gung Hospital, School of Clinical Medicine, Tsinghua University Beijing 102218, China.
出版信息
Am J Transl Res. 2023 May 15;15(5):3731-3738. eCollection 2023.
OBJECTIVE
The short tandem repeat (STR) technique, which is currently the most extensively applied genetic marker, works mainly due to the differences in DNA repeats, resulting in a rich population polymorphism and high genetic stability. This paper primarily investigated the application of STR genotyping in partial hydatidiform mole (PHM).
METHODS
The clinical data of 31 PHM patients and 23 hydropic abortion patients diagnosed in the Pathology Department of Beijing Tsinghua Chang Gung Hospital from 2017 to 2022 were collected and retrospectively analyzed. The histomorphological features of H&E sections were observed. Immunohistochemical staining was performed to determine p57 protein levels. STR polymorphisms (STRPs), including 15 polymorphic loci and 1 sex recognition gene locus, were detected in tissue specimens, and the role of STR in the differential diagnosis of PHM was analyzed.
RESULTS
In PHM cases, each STR locus of the PHM contained one maternal allele and two paternal alleles. Decidual tissue showed alleles of biparental origin. According to the Kappa's consistency test, the diagnosis made by STR showed good consistency (κ = 0.925, P < 0.001).
CONCLUSIONS
STR genotyping is of great value in the diagnosis of PHM.
目的
短串联重复序列（STR）技术是目前应用最广泛的遗传标记，主要基于DNA重复序列的差异发挥作用，具有丰富的群体多态性和较高的遗传稳定性。本文主要探讨STR基因分型在部分性葡萄胎（PHM）中的应用。
方法
收集2017年至2022年在北京清华长庚医院病理科诊断的31例PHM患者和23例稽留流产患者的临床资料并进行回顾性分析。观察苏木精-伊红（H&E）切片的组织形态学特征。进行免疫组织化学染色以测定p57蛋白水平。在组织标本中检测包括15个多态性位点和1个性别识别基因位点的STR多态性（STRP），并分析STR在PHM鉴别诊断中的作用。
结果
在PHM病例中，PHM的每个STR位点包含一个母本等位基因和两个父本等位基因。蜕膜组织显示双亲来源的等位基因。根据Kappa一致性检验，STR诊断具有良好的一致性（κ = 0.925，P < 0.001）。
结论
STR基因分型在PHM诊断中具有重要价值。
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