Affara N A, Ferguson-Smith M A, Tolmie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florentin L
Nucleic Acids Res. 1986 Jul 11;14(13):5375-87. doi: 10.1093/nar/14.13.5375.
A series of twelve XX males and their relatives have been examined by Southern blot analysis with fourteen different Y recombinants. The pattern of Y sequences present shows considerable variation between XX males. Furthermore, on the basis of the terminal transfer model, anomalous patterns of Y sequences are evident in certain XX males in that sequences located as proximal Yp by means of a Y deletion panel are found to be present in the absence of distal sequences. These anomalies can be resolved by proposing that the order of Yp sequences varies in the population in the form of inversion polymorphisms in the Y chromosomes of normal males. Alternatively, it is necessary to invoke multiple recombination events between the X and Y chromosomes to explain the patterns of Y sequences in these XX males. Southern analysis on DNA prepared from flow sorted X chromosomes of XX males indicates that the Y sequences in these patients are linked to X chromosomes.
利用14种不同的Y重组体，通过Southern印迹分析对12名XX男性及其亲属进行了检测。所呈现的Y序列模式在XX男性之间存在相当大的差异。此外，根据末端转移模型，某些XX男性中Y序列的异常模式很明显，即通过Y缺失图谱定位为近端Yp的序列在没有远端序列的情况下也被发现存在。这些异常可以通过提出Yp序列的顺序在正常男性的Y染色体中以倒位多态性的形式在群体中变化来解释。或者，有必要援引X和Y染色体之间的多次重组事件来解释这些XX男性中Y序列的模式。对从XX男性的流式分选X染色体制备的DNA进行的Southern分析表明，这些患者中的Y序列与X染色体相连。
