Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba, Chiba, 260-8670, Japan.
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan.
Sci Rep. 2019 Aug 29;9(1):12542. doi: 10.1038/s41598-019-49047-7.
Hydatidiform moles are abnormal pregnancies, which show trophoblastic hyperplasia. Most often, the nuclear genome in complete hydatidiform moles (CHMs) is composed of only paternal chromosomes. Diploid androgenetic conceptuses can be divided into homozygous and heterozygous CHMs. Heterozygous CHMs originate from two sperms or a diploid sperm, the distinction of which has not been established. Here, we assessed the origin of heterozygous CHMs using single nucleotide polymorphism (SNP) array. Thirteen heterozygous CHMs were analysed using B allele frequency (BAF) plotting to determine the centromeric zygosity status of all chromosomes. One case was from the duplication of a single sperm with an XY chromosome. In the other twelve cases, centromeric zygosity was random, i.e. mixed status. Thus, the twelve heterozygous CHMs were considered to be of dispermic origin but not diploid sperm origin. BAF plotting of SNP array can be a powerful tool to estimate the type of hydatidiform moles.
葡萄胎是一种异常妊娠，表现为滋养细胞增生。大多数情况下，完全性葡萄胎（CHM）的核基因组仅由父系染色体组成。二倍体的精原细胞性葡萄胎可分为纯合子和杂合子 CHM。杂合子 CHM 来源于两个精子或一个二倍体精子，但尚未确定其区别。在这里，我们使用单核苷酸多态性（SNP）阵列评估了杂合子 CHM 的起源。通过 B 等位基因频率（BAF）绘图分析了 13 例杂合子 CHM，以确定所有染色体的着丝粒二倍体状态。一个病例来自单个携带 XY 染色体的精子的复制。在其他 12 例中，着丝粒二倍体状态是随机的，即混合状态。因此，这 12 例杂合子 CHM 被认为是双精子来源，而不是二倍体精子来源。SNP 阵列的 BAF 绘图可以成为估计葡萄胎类型的有力工具。
