Huegel A, Coyle L, McNeil R, Smith A
Cytogenetics Unit, Children's Hospital, Camperdown, New South Wales.
Pathology. 1995 Jan;27(1):86-90. doi: 10.1080/00313029500169552.
Traditional cytogenetic analysis from bone marrow aspirates is time consuming and frequently suboptimal due to poor viability of cells in culture. Fluorescence in situ hybridization (FISH) with appropriate DNA probes is a potential alternative to routine cytogenetics. Our study examined the reliability of uptake of specific alpha satellite centromere probes from chromosome 18 (D18Z1) and X (DXZ1) and the Yq heterochromatin (pHY3.4) directly from routine hematological bone marrow smears. Altogether 34 separate hybridizations, performed on slides from 20 patients, were scored for fluorescence signals. Cells in interphase were examined with each probe using unstained slides. In addition Giemsa stained slides were destained and then used for interphase FISH. Between 412 and 631 cells were scored for the expected number of signals; 2 for the 18 centromere, 2 for the X centromere in females, one signal for the Yqh in males. The results showed the expected number of signals in 87-97% of cells with the 18 and X probes and 95-97% of cells with the Y probe. Interphase FISH is a reliable, reproducible technique for use on direct bone marrow smears.
传统的骨髓穿刺液细胞遗传学分析耗时且往往不理想，因为培养中的细胞活力较差。使用合适的DNA探针进行荧光原位杂交（FISH）是常规细胞遗传学的一种潜在替代方法。我们的研究检测了直接从常规血液学骨髓涂片摄取来自18号染色体（D18Z1）、X染色体（DXZ1）的特定α卫星着丝粒探针以及Yq异染色质（pHY3.4）的可靠性。对来自20名患者的载玻片进行了总共34次单独杂交，并对荧光信号进行评分。使用未染色的载玻片，用每种探针检查间期细胞。此外，对吉姆萨染色的载玻片进行脱色，然后用于间期FISH。对412至631个细胞进行评分，以确定预期的信号数量；18号着丝粒为2个，女性的X着丝粒为2个，男性的Yqh为1个信号。结果显示，使用18号和X号探针时，87 - 97%的细胞出现预期数量的信号，使用Y号探针时，95 - 97%的细胞出现预期数量的信号。间期FISH是一种可靠、可重复的技术，可用于直接骨髓涂片。
