用生物素标记Y特异DNA探针对一例Y染色体结构异常患者的研究

Studies on a case of structured anomalies of Y chromosome by using biotinglated Y specific DNA probe

用生物素标记Y特异3.4kbDNA为探针,应用染色体原位杂交技术对一例表型异常、常规染色体显带技术为小Y染色体的患者进行了研充:该患者不能与3.4kbDNA杂交,与~3H标记探针的染色体原位杂交结果一致。进一步以生物素标记此探针对患者的基因组DNA进行Southern印迹杂交分析,患者缺少一部分可检测的男性特异性片段,结合其临床特征,提示该患者为Yq的中间缺失。

Studies were made by using biotinglated Y chromosome specific 3.4kb DNA probe for chromosome in situ hybridization in a case of phenotypic anomalies and a small Y chromosome with conventional chromosome-banding techniques. The results showed the case didn't hybrid to 3.4 kb DNA but corresponded with ~3H-labeled probe for chromosome in situ hybridization. Southern blotting of the case revealed that the case lacked part of the commonly detected male-specific fragment. Based on the case clinical character, we suggested that the case was interstitial delection of Yq.