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代际交流与围产期风险:关于代际复发风险解读的一则注释

Intergenerational exchange and perinatal risks: a note on interpretation of generational recurrence risks.

作者信息

Lie Rolv T

机构信息

Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway.

出版信息

Paediatr Perinat Epidemiol. 2007 Jul;21 Suppl 1:13-8. doi: 10.1111/j.1365-3016.2007.00832.x.

Abstract

Population-based data that cover reproductive health outcomes across two complete generations have recently become available in the Nordic countries. Such data enable estimation of recurrence risks from one generation to the next of different conditions such as birth defects or pre-eclampsia. Risks related to a singleton pregnancy involve the contribution of three individuals: the mother, the father and the fetus. A paternal contribution is mainly through the father's contribution of half of the alleles of the fetus. A maternal contribution may occur in three fundamentally different ways. First, the mother provides half of the genomic alleles to the fetus, with contribution of paternal alleles completing the whole genome. Second, the mother provides the fetal environment and possible susceptibility to complications during pregnancy which she may have inherited from her mother. Finally, she provides the fetal mitochondria. Because of these different contributions, recurrence from mother to offspring is fundamentally different from recurrence from father to offspring. How recurrence risks reflect and shape the underlying contributions to overall perinatal risk is illustrated through a review of published data from Norway on gestational age, pre-eclampsia and birth defects.

摘要

最近,北欧国家已经有了涵盖两代完整人群生殖健康结果的基于人群的数据。这些数据能够估计不同情况(如出生缺陷或先兆子痫)从一代到下一代的复发风险。与单胎妊娠相关的风险涉及三个人的作用:母亲、父亲和胎儿。父亲的作用主要是通过父亲为胎儿提供一半的等位基因。母亲的作用可能以三种根本不同的方式发生。首先,母亲为胎儿提供一半的基因组等位基因,父亲的等位基因补充完整整个基因组。其次,母亲提供胎儿的生长环境以及怀孕期间可能对并发症的易感性,而她可能从自己的母亲那里继承了这些。最后,她提供胎儿的线粒体。由于这些不同的作用,母亲到后代的复发与父亲到后代的复发在根本上是不同的。通过回顾挪威关于孕周、先兆子痫和出生缺陷的已发表数据,说明了复发风险如何反映并形成对总体围产期风险的潜在作用。

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