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通过分子分析鉴定出的具有2N/3N嵌合现象的部分性葡萄胎。

A partial hydatidiform mole with 2N/3N mosaicism identified by molecular analysis.

作者信息

Ikeda Y, Jinno Y, Masuzaki H, Niikawa N, Ishimaru T

机构信息

Department of Obstetrics and Gynecology, Nagasaki University School of Medicine, Japan.

出版信息

J Assist Reprod Genet. 1996 Oct;13(9):739-44. doi: 10.1007/BF02066430.

DOI:10.1007/BF02066430
PMID:8947825
Abstract

PURPOSE

A placenta with a partial hydatidiform mole was studied using DNA polymorphic markers to determine whether it has a triploid cell line.

METHOD

Parent-mole transmission of alleles at 23 polymorphic loci was traced in cells from a molar region and a normal-looking region of the placenta by polymerase chain reaction (PCR) amplification or Southern blot analysis, both followed by densitometric analysis.

RESULTS

Allele patterns for 8 of the 23 loci were identical between the DNA from the molar and normal regions of the placenta, while those of the remaining 15 loci were uninformative. In the molar region, the band intensity for the paternally derived allele at each informative locus was always greater than that of the maternally derived allele, the average intensity ratio of the former to the latter being 1.5, whereas the ratio in the normal region was even.

CONCLUSIONS

The results suggested that the molar region was a mixoploid consisting of diploid and triploid cells and the phenotypically normal region had a mainly diploid constitution. It is most likely that the placenta may have originated from a single diploid or triploid conceptus, followed by postzygotic gain or loss of a paternal haploid set, and that an extra paternal set contributed to hydropic changes of the placenta.

摘要

目的

使用DNA多态性标记物对部分性葡萄胎胎盘进行研究,以确定其是否具有三倍体细胞系。

方法

通过聚合酶链反应(PCR)扩增或Southern印迹分析,随后进行光密度分析,追踪胎盘中葡萄胎区域和外观正常区域细胞中23个多态性位点上等位基因的亲代-葡萄胎传递情况。

结果

胎盘中葡萄胎区域和正常区域的DNA之间,23个位点中的8个位点的等位基因模式相同,而其余15个位点的等位基因模式无信息价值。在葡萄胎区域,每个有信息价值位点上父源等位基因的条带强度总是大于母源等位基因,前者与后者的平均强度比为1.5,而在正常区域该比例是均等的。

结论

结果表明,葡萄胎区域是由二倍体细胞和三倍体细胞组成的混倍体,表型正常区域主要由二倍体构成。胎盘很可能起源于单个二倍体或三倍体受精卵,随后在合子后阶段发生父本单倍体组的获得或丢失,并且额外的父本基因组导致了胎盘的水肿变化。

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引用本文的文献

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Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts.在多极卵裂过程中,亲代基因组分离到不同的卵裂球中,导致混倍体和嵌合囊胚。
Genome Biol. 2022 Oct 3;23(1):201. doi: 10.1186/s13059-022-02763-2.

本文引用的文献

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Partial molar pregnancy with fetal survival: an unusual example of confined placental mosaicism.
Obstet Gynecol. 1993 Oct;82(4 Pt 2 Suppl):716-9.
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A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.位于1号染色体上的人类LAMB2基因中的二核苷酸重复多态性。
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