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再次探讨 IVF 和视网膜母细胞瘤。

IVF and retinoblastoma revisited.

机构信息

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

出版信息

Fertil Steril. 2012 Jan;97(1):79-81. doi: 10.1016/j.fertnstert.2011.10.035. Epub 2011 Nov 23.

Abstract

OBJECTIVE

To evaluate the suggested association between IVF, retinoblastoma, and tumor methylation characteristics.

DESIGN

Laboratory analysis.

SETTING

National Retinoblastoma Center in the Netherlands.

PATIENT(S): Retinoblastoma tumors from seven children conceived by IVF or intracytoplasmic sperm injection (ICSI).

INTERVENTION(S) AND MAIN OUTCOME MEASURE(S): DNA from frozen retinoblastoma tumors was tested for mutations in the RB1 gene and for methylation status of the RB1 promoter.

RESULT(S): For all tumors two causative RB1 mutations were found. None of the tumors showed hypermethylation of the RB1 promoter.

CONCLUSION(S): Examination of retinoblastoma tumors of seven children conceived by IVF or ICSI did not show hypermethylation of the RB1 promoter. This demonstrates that an association between IVF or ICSI and retinoblastoma through this epigenetic mechanism is unlikely.

摘要

目的

评估 IVF、视网膜母细胞瘤和肿瘤甲基化特征之间的关联。

设计

实验室分析。

地点

荷兰国家视网膜母细胞瘤中心。

患者

通过体外受精或胞浆内单精子注射受孕的七名儿童的视网膜母细胞瘤肿瘤。

干预措施和主要观察指标

冷冻的视网膜母细胞瘤肿瘤的 DNA 检测 RB1 基因的突变和 RB1 启动子的甲基化状态。

结果

所有肿瘤均发现两个致病变异 RB1。没有一个肿瘤显示 RB1 启动子的过度甲基化。

结论

对通过体外受精或胞浆内单精子注射受孕的七名儿童的视网膜母细胞瘤肿瘤的检查未显示 RB1 启动子的过度甲基化。这表明通过这种表观遗传机制,IVF 或 ICSI 与视网膜母细胞瘤之间不太可能存在关联。

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