O'Reilly A J, Affara N A, Simpson E, Chandler P, Goulmy E, Ferguson-Smith M A
University of Cambridge, Department of Pathology, UK.
Hum Mol Genet. 1992 Sep;1(6):379-85. doi: 10.1093/hmg/1.6.379.
41 Y-linked DNA probes that detect sequences on the Y chromosome long arm have been used to analyse genomic DNA from a series of 23 patients with deletions of Yq. Southern blot analysis has differentiated 15 distinct breakpoints, which divide Yq into 14 mapping intervals. From the pattern of DNA sequences present in each patient, it has been possible to produce a congruent deletion map, with the exception of two cases which are not compatible with the consensus order. These patients can be explained by the presence of inversion polymorphisms on Yq in the general population or by complex rearrangements induced during the formation of the deleted chromosomes. The distribution of sequences on the Y long arm has defined distinct regions of homology with autosomes, the Y short arm and the long and short arms of the X. A number of the patients have been typed for the presence or absence of H-Y antigen (as determined by the cytotoxic T-cell assay) and it has been possible, from analysis of informative cases, to assign the locus to the proximal region of the Yq euchromatin.
41种用于检测Y染色体长臂上序列的Y连锁DNA探针已被用于分析23例Yq缺失患者的基因组DNA。Southern印迹分析已区分出15个不同的断点，这些断点将Yq分为14个定位区间。根据每位患者中存在的DNA序列模式，除了两例与一致顺序不相符的情况外，有可能绘制出一个一致的缺失图谱。这些患者可以通过一般人群中Yq上存在倒位多态性或在缺失染色体形成过程中诱导的复杂重排来解释。Y长臂上序列的分布确定了与常染色体、Y短臂以及X染色体长短臂具有不同的同源区域。对许多患者进行了H-Y抗原存在与否的分型（通过细胞毒性T细胞试验确定），并且通过对信息性病例的分析，有可能将该基因座定位到Yq常染色质的近端区域。
