许多有DNA修复缺陷和/或染色体不稳定的遗传病患者,由于临床表型各异,若无特殊的实验检查很难作出诊断。如Fanconi贫血(FA)病人拇指和桡骨异常或有或无,骨髓衰竭的起始年龄也各不相同,这就难于同其他造血功能低下的疾病相区别。本文介绍的简易细胞遗传学方法为解决上述问题提供了可能。该方法经作者重复应用,并经其他作者验证确认可靠。本方法是基于已知FA细胞对双功能(bi-function)烷化剂-丝裂霉素C(MC)有高敏感性而建立的。其具体方法是:将待检FA病人的经肝素抗凝的全血0.5ml加至含10%胎牛血清,100IU/ml青霉素,100μg/ml链霉素和1%PHA的Eagle培养液 Many genetic diseases with defects in DNA repair and / or chromosomal instability are difficult to diagnose without specific laboratory tests due to the different clinical phenotypes. If Fanconi anemia (FA) patients with abnormal thumb or radial bone, with or without the onset of bone marrow failure varies from age to age, it is difficult to distinguish with other hematopoietic disorders. This article describes the method of simple cytogenetics to solve the above problems may provide. The method is repeated by the author and verified by other authors to confirm its reliability. The method is based on the known high sensitivity of FA cells to the bi-function alkylating agent, mitomycin C (MC). Specifically, 0.5 ml of heparin-anticoagulated whole blood to be tested was added to Eagle’s medium containing 10% fetal bovine serum, 100 IU / ml penicillin, 100 μg / ml streptomycin and 1% PHA