短串联重复序列STR分析在葡萄胎诊断中的作用研究

发布时间：2018-06-22 12:21

本文选题：葡萄胎 + 短串联重复序列　；参考：《现代妇产科进展》2017年02期

【摘要】：目的:探讨短串联重复序列(short tandem repeat,STR)基因多态性检测在葡萄胎鉴别诊断中的临床应用价值。方法:收集乌鲁木齐市妇幼保健院病理科2000年至2015年间临床及病理形态学上明确诊断完全性葡萄胎(CHM)、部分性葡萄胎(PHM)和水肿性流产各40例、20例和20例。组织标本经STR基因多态性检测,STR检测包括7个多态性位点(D7S820、D13S317、D16S59、TPOX、TH01、CSF1PO、VWA),分析其在葡萄胎鉴别诊断中的作用。结果:(1)组织病理学结果:水肿性流产可见局灶绒毛组织水肿,无明显的滋养叶细胞增生;PHM可见部分区域绒毛组织水肿及滋养细胞包涵体形成,滋养叶细胞轻到中度增生;CHM可见绒毛间质明显水肿,明显的水池形成及滋养细胞明显增生。(2)STR结果显示:病理学诊断为水肿性流产的病例中每个STR位点均含有父源和母源性各1个等位基因(18/18),2例检测失败。病理诊断为PHM的病例中,单卵单精型部分性葡萄胎(MPM)和单卵双精型部分性葡萄胎(DPM)分别为2(2/19)例和14例(14/19),还有3例为均含有父源和母源性各1个等位基因3(3/19),另有1例检测失败。病理诊断为CHM的病例中,单精纯合型完全性葡萄胎(MCM)和双精杂合型完全性葡萄胎(DCM)分别为25例(25/35)和10例(10/35),另有5例检测失败。结论:组织病理对于PHM的诊断准确性不高,7个STR位点多态性分析在CHM、PHM和水肿性流产的鉴别诊断中具有重要作用。
[Abstract]:Objective: to evaluate the clinical value of short tandem repeat (STR) (short tandem repeat gene polymorphism in differential diagnosis of hydatidiform mole (hydatidiform mole). Methods: totally hydatidiform mole (CHM), 40 cases of partial hydatidiform mole (PHM) and 20 cases of edematous abortion from 2000 to 2015 in Department of Pathology of Maternal and Child Health Care Hospital of Urumqi were clearly diagnosed as complete hydatidiform mole (CHM), 40 cases of partial hydatidiform mole (PHM) and 20 cases of edema abortion respectively. The STR gene polymorphism was detected by STR gene polymorphism in tissue samples, including 7 polymorphic loci (D7S820, D13S317, D16S59). The role of STR in differential diagnosis of hydatidiform mole (hydatidiform mole) was analyzed by analyzing its role in differential diagnosis of hydatidiform mole (hydatidiform mole). Results: (1) histopathological results: local villi edema was observed in edema abortion, and no obvious trophoblastic proliferation was found in PHM. Some of the villi edema and trophoblastic inclusion bodies were observed in PHM. Chorionic stromal edema could be seen in CHM with mild to moderate proliferation of trophoblastic cells. (2) the STR results showed that each STR locus contained one parent allele (18 / 18) and one maternal allele (18 / 18) in 2 cases of histologically diagnosed edematous abortion. The pathological diagnosis of PHM included 2 (2 / 19) cases of monozygotic partial mole (MPM) and 14 (14 / 19) of monozygotic diospermic partial mole (DPM), 3 (3 / 19) of 3 alleles (3 / 19) of paternal and maternal origin, and 1 case of failure in the detection of MPM and DPM, respectively. There were 25 cases (25 / 35) of complete hydatidiform mole (MCM) and 10 cases (10 / 35) of heterozygous hydatidiform mole (DCM) diagnosed pathologically as CHM. Conclusion: histopathology is not accurate in the diagnosis of PHM. The polymorphism analysis of seven STR loci plays an important role in the differential diagnosis of PHM and edematous abortion.
【作者单位】：乌鲁木齐市妇幼保健院病理科;乌鲁木齐市妇幼保健院产前诊断中心;北京大学人民医院病理科;
【基金】：乌鲁木齐市科学技术局基金(No:Y141310055)
【分类号】：R737.33

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