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目的 确定一个有反复流产史且常规 G显带发现有 7q末端缺失病例的核型 ,探讨染色体末端区域插入易位的形成机理。方法 应用显微切割制备的 7号特异性全染色体探针和 7q亚端粒 (7q36→qter)探针 ,与病例的中期分裂相进行荧光原位杂交 (fluorescence in situ hybridization,FISH)。结果 发现了该病例为常规 G显带难以发现的 1号和 7号染色体之间的插入易位 ,7q36→ qter区域没有插入到 1号染色体中 ,其异常核型来源于其母亲。结论 为染色体末端区域的插入易位仍然为一个三断裂重排 ,细胞遗传学上见到的末端缺失为中间缺失提供了实验证据 ,FISH与显微切割技术相结合 ,是检出染色体微小结构异常的一个强有力的工具。
OBJECTIVE: To determine the karyotype of patients with recurrent abortion and regular G-banding with 7q deletion and to explore the mechanism of insertion into the terminal region of chromosomes. Methods Fluorescence in situ hybridization (FISH) was performed with the metaphase 7 (7q36 → qter) probe prepared by microdissection. The results showed that this case was inserted translocations between chromosomes 1 and 7, which was difficult to find by conventional G-banding. The region of 7q36 → qter was not inserted into chromosome 1, and the abnormal karyotype was derived from its mother. The conclusion is that the insertion translocation in the terminal region of the chromosome is still a triple-cleavage rearrangement, and the terminal deletion seen on the cytogenetics provides experimental evidence for the deletion of the middle region. FISH combined with the microdissection technique detects minor structural abnormalities of the chromosome A powerful tool.