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目的 探索用间期细胞FISH快速分析男性性腺发育不全患者染色体数目异常的方法。方法 应用生物素和地高辛分别标记X染色体特异性人工细菌染色体 (BAC)DNA以及Yq12区域重复序稽pY3.4DNA ,对 15例男性性腺发育不全患者外周血淋巴细胞间期核进行双色荧光原位杂交 (FISH)分析。结果 淋巴细胞间期核FISH和常规染色体分析结果一致 ,可发现 4 7,XXY、4 6 ,XX和 4 6 ,XY/ 4 7,XXY嵌合体等。结论 间期双色FISH可以快速分析男性性腺发育不全患者的性染色体数目异常 ,为临床诊断提供依据。
Objective To explore the method of rapid analysis of chromosome abnormalities in male patients with gonadal dysgenesis by interphase FISH. Methods Biotin and digoxigenin were used to label X chromosome specific artificial bacterial chromosome (BAC) DNA and YQ12 repetitive sequence of pY3.4 DNA. The peripheral blood lymphocyte interphase nuclei of 15 male patients with gonadal dysgenesis were subjected to two-color fluorescence Bit hybridization (FISH) analysis. Results Lymphocyte interphase nuclear FISH was consistent with the results of conventional chromosome analysis. It was found that 4 7, XXY, 46, XX and 46, XY / 47, XXY chimera and so on. Conclusion Interphase two-color FISH can rapidly analyze the abnormality of sex chromosome number in male patients with gonadal dysgenesis and provide the basis for clinical diagnosis.