Alitalo T, Tiihonen J, Hakola P, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Hum Genet. 1988 May;79(1):29-35. doi: 10.1007/BF00291705.
We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prototype of those translocations between Yq and the short arm of an acrocentric chromosome which have a population incidence of approximately 1 in 2,000. Our molecular studies showed that, in all probability, the breakpoints were near the border between Yq11.23 and Yq12, and in 15p11, respectively; the translocation is abbreviated t(Y;15)(q12;p11). Using the Y-specific probe pY431 in a quantitative Southern hybridization assay, normal females had no hybridization, female carriers and normal men had the same amount, and male carriers had twice that amount. Cytogenetic analysis and quantitative in situ hybridization using probes pY431 and pY3.4 were consistent with the hypothesis that the portion of Yq translocated to 15p comprised all of Yq12 and none of Yq11. The absence of Southern hybridization with probes specific for Yp and Yq11 confirmed this observation. Even though the family was ascertained through two brothers who both had schizophrenia and were carriers of the translocation, the clinical evaluation of a total of nine individuals with the translocation and five without it did not suggest its association with an abnormal phenotype.
我们使用Y特异性和Y衍生的DNA探针进行原位杂交和Southern印迹分析，以鉴定一个在家族中呈现正常孟德尔遗传的Y;15易位。细胞遗传学分析显示，似乎存在Yqh向15p的不平衡易位；这种易位可被视为Yq与近端着丝粒染色体短臂之间易位的一个原型，其在人群中的发生率约为1/2000。我们的分子研究表明，断点很可能分别靠近Yq11.23与Yq12的边界以及15p11；该易位简记为t(Y;15)(q12;p11)。在定量Southern杂交试验中使用Y特异性探针pY431，正常女性无杂交信号，女性携带者和正常男性的杂交信号量相同，而男性携带者的杂交信号量是前两者的两倍。使用探针pY431和pY3.4进行的细胞遗传学分析和定量原位杂交结果与以下假设一致：易位至15p的Yq部分包含了所有的Yq12而不包含Yq11。用Yp和Yq11特异性探针进行Southern杂交未出现杂交信号，证实了这一观察结果。尽管该家族是通过两名患有精神分裂症且为易位携带者的兄弟确定的，但对总共9名易位携带者和5名非易位携带者的临床评估并未表明其与异常表型有关。
