应用端粒区带涂染探针检测染色体微小结构重排

为了评估染色体端粒区带涂染探针在遗传诊断的应用价值，应用显微切割获得的11q、12q和22q等3个染色体端粒区涂染探针（11q23.3→qter，12q24.1→qter，22q13.1→qter），通过荧光原位杂交技术分析两个疑有染色体末端微小易位的习惯性流产病例。结果显示，病例1和病例2分别为t(11;12)和t(11;22)长臂末端间的微小易位，结合G显带技术确定断裂位点位于11q23.3、12q24.1、22q13.1。结果表明特异性染色体端粒区带探针可以确诊染色体末端区域的微小结构异常，可作为一种检出隐匿易位携带者并确定断裂位点的方法。

Minute Chromosome Rearrangement Detected by Human Telomeric Band Painting Probes

In order to assess the value of applying human chromosomal telomeric band painting probes (TBPs) in genetic diagnosis, we used three human telomeric band painting probes in fluorescence in situ hybridization (FISH) to analyze two cases who had a history of habitual abortion and were suspected to carrying a minute translocation. The probes were prepared by microdissection, and the covered regions were 11q23.3-->qter12q24.1-->qter and 22q13.1-->qter, respectively. According to the FISH results, both the cases were cryptic minute translocation carriers. The involved chromosomes were chromosome 11 and 12 in case 1, and chromosome 11 and 22 in case 2. Combined with chromosome G banding, their breakpoints were 11q23.3, 12q24.1, and 22q13.1, respectively. The results showed that the telomeric band painting probes can be used as a tool to determine minute chromosomal abnormality and the precise breakpoints.