Intracytoplasmic sperm injection may increase the risk of imprinting defects

被引：529

作者：

Cox, GF

Bürger, J

Lip, V

Mau, UA

Sperling, K

Wu, BL

Horsthemke, B

机构：

[1] Childrens Hosp, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA USA

[3] Humboldt Univ, Charite, Inst Humangenet, Berlin, Germany

[4] Univ Tubingen, Inst Humangenet, Tubingen, Germany

[5] Univ Essen Gesamthsch, Inst Humangenet, Essen, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 01期

关键词：

D O I：

10.1086/341096

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsatellite and quantitative Southern blot analysis, revealed a sporadic imprinting defect in both patients. We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo.

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页码：162 / 164

页数：3

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