Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk

外显子组测序将 CEP120 突变与母源性非整倍体受孕风险联系起来

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作者:Katarzyna M Tyc, Warif El Yakoubi, Aishee Bag, Jessica Landis, Yiping Zhan, Nathan R Treff, Richard T Scott, Xin Tao, Karen Schindler, Jinchuan Xing

Methods

Patients self-identified their ethnic groups and their ages ranged from 22 to 49 years old. The study was performed using genomes from White, non-Hispanic patients divided into controls (97) and cases (69) according to the number of aneuploid blastocysts derived during each IVF procedure. Following a gene prioritization strategy, a mouse oocyte system was used to validate the functional significance of the discovered associated genetic variants. Main

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