改良R显带技术在恶性血液病染色体核型鉴定中的应用

目的:建立易于识别的改良染色体R显带方法。方法:用改良的染色体R显带方法对30例各种类型的染色体进行显带,并对显带的染色体核型进行研究;将传统R显带技术中用10%吉姆萨染液取代吖啶橙工作液,调整欧氏液各种试剂成分和简化试验步骤。结果:30例恶性血液病的染色体核型结果分析显示29例有染色体的核型异常。其中11例慢性粒细胞白血病,均可见费城染色体(即Ph1)。7例急性淋巴细胞性白血病中有3例出现Ph1,其中1例为嵌合体,其余4例急性淋巴细胞白血病中分别出现-22,+Mar(D?)、del(11)(q23)及正常核型或多倍体。10例急性髓性白血病,其中3例M2中2例t(8;21)。1例出现15q+;5例M3中3例见t(15;17),1例考虑为M5,1例少见核型,1例M1根据核型应诊断为M2型。2例骨髓增生异常综合征出现-21,+16数目上的异常,1例出现小Mar,未发现特征性染色体异常。结论:采用改良R显带技术对染色体进行核型研究可以获得一种较稳定带纹丰富的染色体显带图像,使染色体核型鉴定更简便、易于识别,可在实验室中进行推广。

Identifying caryotype of malignant hemopathy using modified reverse-banding technique

Objective： To establish a modified reverse-banding R-banding technique for identifying caryotgper of chromosome. Methods：Thirty patients with malignant hemopathy were detected using modified technique of R-banding, and the caryotype of the cases was studied. Acridine orange solution was substituted with 10% Giemsa, the composition of the reagents was readjusted and the procedures of the experiment were simplified. Results： In the 30 patients of malignant hemopathy, 29 cases presented abnormal caryotype. PhI was observed in all 11 cases of chronic myelocytic leukemia（CML） and 3 of the 7 cases of acute lymphoblastic leukemia （ALL） ;chimera was found in 1 of the 7 ALL cases and 4 cases demonstrated -22, ＋ Mar （D？） ,del （ 11 ） （ q23 ） and normal karyotyp or muhiploid. Among the 10 cases of acute myeloid leukaemia （AML） ,2 of the 3 cases of M2 were t （ 8 ;21 ）, 1 case appeared 15 q＋ ; 3 of the 5 cases of M3 were t（ 15 ; 17）, 1 case was MS, 1 case was rare caryotype, 1 case was M2,2 cases showed abnormal number on myelodysplastic syndrome （MDS）（ -21, ＋ 16） and 1 case appeared small Mar. No characteristic chromatosome abnormality was found. Conclusions： A relatively stable and accurate chromosome banding image can be obtained by using modified R-banding technique and the identification of chromatosome caryotype becomes easier to handle and recognize. This technique is recommended for wide use in the laboratory.