再生障碍性贫血的染色体改变及意义

CYTOGENETIC STUDIES ON APLASTIC ANEMIA

对26例再生障碍性贫血患者的23份外周血、4份直接制片成功的骨髓液共908个中期分裂相细胞进行G带核型分析,除2例外周血、1例骨髓细胞未发现染色体异常外,各例均出现不同类型与比例的染色体改变,四倍体出现率52.2%(12/23),非整倍数异常有-5,+7,+/-8,+10,-16,+17,+/-21,+/-Y及以单体断裂为主的结构异常,频发断裂点为4q31,5q31,13p11;并发现本病的染色体改变与临床分型、药物或化学接触史及转归存在一定的相关性联系,其中1例AA转化为MDS-RAEB,提示两者之间可能存在某种共同的分子遗传学与细胞遗传学基础。

Cytogenetic and clinical studies were done on 26 patientswith aplastic anemia(AA).A total of 908 G-banding karyotypes wasexamined in cultural cells of 23 cases peripheral blood and 4 cases bone-marrow.The results showed that all patients presented with either nu-merical or structural abnormalities of the chromosomes except 2 casesperipheral blood and 1 case bone-marrow cells.The chief numerical changesare 4n(12/26 cases)and aneuploid such as:-5,+7,+/- 8,+10,-16,+17,+/-21 and +/-Y.The mainly structural aberrations arebreakage of chromatid.The frequently breakage points appear at 4q31,5q31 and 13p11.In addition,we discovered these conditions also relatedto clinical types of this disorder,contacted with some drugs or chemicalmaterials or turned into other diseases for example,one of these casesfinally changed into MDS-RAEB.Suggesting that similarties bases ofmolecular genetics or cytogenetic of AA between MDS may be present.