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胚胎期和胎儿期三倍体的亲代及减数分裂起源

Parental and meiotic origin of triploidy in the embryonic and fetal periods.

作者信息

McFadden D E, Langlois S

机构信息

Department of Pathology, Children's and Women's Health Centre of B.C. and University of British Columbia, Vancouver, Canada.

出版信息

Clin Genet. 2000 Sep;58(3):192-200. doi: 10.1034/j.1399-0004.2000.580306.x.

Abstract

Triploidy is a common finding both in early spontaneous abortions and in the fetal period. Previous studies suggested that the majority of triploidy was the result of diandry, specifically dispermy. Molecular determination of parental origin in fetal triploids has shown that digyny accounts for the majority of triploids in the fetal period. The aim of this study was to determine the meiotic level at which the error leading to digynic triploidy occurs and to extend the molecular analysis of parental origin of triploidy into the embryonic period. Maternal age of digynic triploids was compared with that of the diandric cases. Using polymorphic pericentromeric markers, we have shown that the majority of digynic triploidy is the result of errors in the second meiotic division. Digyny accounted for the majority of triploids, even in the nonfetal cases. Diandry predominated in a subset of the non-fetal cases in which embryos were not present and in which the placental findings of partial hydatidiform mole (PHM) were encountered. Maternal age differed between the digynic and diandric groups only for the non-fetal cases; this was attributed to differences in ascertainment.

摘要

三倍体在早期自然流产和胎儿期都是常见的发现。先前的研究表明,大多数三倍体是双雄受精的结果,具体而言是双精子受精。对胎儿三倍体亲本来源的分子测定表明,双雌受精在胎儿期三倍体中占大多数。本研究的目的是确定导致双雌受精三倍体的错误发生在减数分裂的哪个水平,并将三倍体亲本来源的分子分析扩展到胚胎期。比较了双雌受精三倍体与双雄受精病例的母亲年龄。使用多态性着丝粒周围标记,我们已经表明,大多数双雌受精三倍体是第二次减数分裂错误的结果。即使在非胎儿病例中,双雌受精也占三倍体的大多数。在没有胚胎且出现部分性葡萄胎(PHM)胎盘表现的非胎儿病例子集中,双雄受精占主导。仅在非胎儿病例中,双雌受精组和双雄受精组的母亲年龄存在差异;这归因于确定方式的不同。

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