Robinson W P, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel A A
Institute for Medical Genetics, University of Zurich, Switzerland.
Eur J Hum Genet. 1993;1(4):280-6. doi: 10.1159/000472425.
Parental ages associated with both maternal and paternal uniparental disomy (UPD) of chromosome 15 are highly elevated in comparison to Zurich population-based controls, with mean maternal and paternal ages of 35.6 and 38.1, respectively for UPD patients (diagnosed in Zurich) and 28.0 and 31.0, in controls. The parental ages are also significantly higher than observed for trisomies of other chromosomes diagnosed in Zurich. The higher age of UPD cases may be due to the fact that two errors, both a gain and a loss of a chromosome 15, are necessary. We suggest that gamete complementation, zygote formation from two gametes one of which is nullisomic and the other disomic for the same chromosome, may be a major mechanism of UPD formation, as well as secondary loss of a chromosome in a trisomic conception, and that there is an association between increased paternal age and nondisjunction.
与苏黎世基于人群的对照组相比,与15号染色体母源和父源单亲二体性(UPD)相关的父母年龄显著升高,UPD患者(在苏黎世确诊)的平均母亲和父亲年龄分别为35.6岁和38.1岁,而对照组为28.0岁和31.0岁。父母年龄也显著高于在苏黎世确诊的其他染色体三体病例。UPD病例年龄较高可能是因为需要两个错误,即15号染色体的一次增加和一次丢失。我们认为,配子互补,即由两个配子形成合子,其中一个对同一染色体缺体而另一个双体,可能是UPD形成的主要机制,以及三体概念中染色体的二次丢失,并且父亲年龄增加与不分离之间存在关联。