Jacobs P A, Wilson C M, Sprenkle J A, Rosenshein N B, Migeon B R
Nature. 1980 Aug 14;286(5774):714-6. doi: 10.1038/286714a0.
Complete or 'true' hydatidiform mole, an abnormality of human gestation, is characterized by hydropic degeneraton of all placental villi, marked hypertrophy of the trophoblast, absence of a fetus and a propensity to become malignant. The chromosome constitution of complete moles is usually 46,XX, and Kajii et al. reported that the entire genome in seven out of seven cases was paternal in origin, with all centromere markers homozygous for paternal heteromorphisms. These observations, since confirmed, can be explained by the fertilization of an 'empty' egg--no effective genome--by either a haploid sperm that then duplicates without cytokinesis, to restore the diploid number, or by a diploid sperm resulting from failure of the second meiotic division. We report here a study of a series of complete moles that shows the first alternative to be correct in the majority of cases.
完全性或“真性”葡萄胎是人类妊娠的一种异常情况，其特征为所有胎盘绒毛的水样变性、滋养层显著肥大、无胎儿以及有恶变倾向。完全性葡萄胎的染色体组成通常为46,XX，Kajii等人报告称，在七例病例中的所有七例中，整个基因组均来自父方，所有着丝粒标记对于父方异型性而言均为纯合子。这些观察结果，自得到证实以来，可以通过以下两种情况来解释：一是“空”卵子（即无有效基因组）被单倍体精子受精，该精子随后在不进行胞质分裂的情况下进行复制以恢复二倍体数目；二是由第二次减数分裂失败产生的二倍体精子受精。我们在此报告对一系列完全性葡萄胎的研究，该研究表明在大多数情况下第一种情况是正确的。
