Fugazza G, Bruzzone R, Sessarego M
Department of Internal Medicine, University of Genoa, Italy.
Cancer Genet Cytogenet. 1996 Jul 1;89(1):31-3. doi: 10.1016/0165-4608(95)00308-8.
Using the fluorescence in situ hybridization technique, we analyzed a ring chromosome that appeared as a karyotype evolution in a patient affected by refractory anemia with excess of blasts in transformation. Metaphases hybridized with a chromosome-8-specific centromeric probe indicated that the ring retained the centromere of chromosome 8. Successively, utilizing a probe specific for all human telomeres, we observed that the ring lost telomeric sequences. This study demonstrated that the formation of a ring chromosome in hematologic disorders can cause loss of genetic material not revealed by banding techniques and therefore providing further proof of the advantages of molecular cytogenetic techniques.
我们使用荧光原位杂交技术，分析了一名处于转化期伴原始细胞增多的难治性贫血患者中出现的作为核型演变的环状染色体。用8号染色体特异性着丝粒探针杂交的中期细胞显示，该环保留了8号染色体的着丝粒。随后，利用一种针对所有人类端粒的探针，我们观察到该环失去了端粒序列。这项研究表明，血液系统疾病中环状染色体的形成可导致带型技术未揭示的遗传物质丢失，从而进一步证明了分子细胞遗传学技术的优势。
