Scherer G, Schempp W, Baccichetti C, Lenzini E, Bricarelli F D, Carbone L D, Wolf U
Institut für Humangenetik und Anthropologie der Universität, Freiburg i.Br., Federal Republic of Germany.
Hum Genet. 1989 Feb;81(3):291-4. doi: 10.1007/BF00279008.
Two 46,XY females with tandem duplications of an X short arm segment were studied by cytogenetic and Southern blot analysis. The results show that the duplicated segment in each case included the Xp21.2-Xp22.2 interval, resulting in a double dose of ZFX on the single active X chromosome. The results from our two cases, in conjunction with those reported by other workers, lead us to conclude that the duplication is the reason for the sex inversion. If ZFY and ZFX are indeed sex-determining gene loci, these findings favour a model of sex determination characterized by antagonistic interaction between these genes.
对两名具有X短臂片段串联重复的46,XY女性进行了细胞遗传学和Southern印迹分析。结果表明，每种情况下的重复片段都包括Xp21.2 - Xp22.2区间，导致单条活性X染色体上的ZFX剂量加倍。我们这两个病例的结果，结合其他研究者报告的结果，使我们得出结论，重复是性别反转的原因。如果ZFY和ZFX确实是性别决定基因座，这些发现支持一种以这些基因之间的拮抗相互作用为特征的性别决定模型。
