急性白血病MTS1基因缺失及点突变的研究  

MTS1 gene deletion and point mutation in children with acute leukemia

作　　者：李戈[1,2,3] 符仁义[1,2,3] 石伟[1,2,3] 李兰[1,2,3] 杨和平[1,2,3] 杨以桡[1,2,3] 

机构地区：[1]四川省人民医院儿科 [2]华西医科大学附属第二医院儿科 [3]衡阳医学院分子生物学研究中心

出　　处：《中华儿科杂志》1999年第5期264-266,共3页Chinese Journal of Pediatrics

摘　　要：目的探讨多肿瘤抑制基因（ＭＴＳ１）突变与恶性血液病间的关系。方法应用聚合酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）分析和ＤＮＡ印迹（ｓｏｕｔｈｅｒｎｂｌｏｔ）方法检测３５例急性白血病患儿ＭＴＳ１基因的改变。结果急性淋巴细胞白血病（ＡＬＬ）患儿的ＭＴＳ１基因缺失（包括点突变）为２６％（８／３１），其中纯合子缺失，ＢＡＬＬ为１６％（４／２５），ＴＡＬＬ为６例中有２例。点突变则两型各占１例。结论我国儿童ＡＬＬ有ＭＴＳ１基因失活，ＴＡＬＬ高于ＢＡＬＬ，点突变仅见于少数病例。提示该基因的失活与小儿急性白血病的发生、发展及预后有密切关系。Objective To investigate the correlation between the mutiple tumor suppressor (MTS1) gene mutation and acute childhood leukemia (AL). Methods The MTS1 gene alteration in AL 35 cases was detected with polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) and southern blot. Results The MTS1 gene deletions including the point mutation were found in 26%(8/31) of ALL cases. Homozygous deletions were found in 16% (4/25) and (2/6) of B cell and Tcell acute lymphoblastic leukemia (BALL and TALL)cases, respectively. The point mutations were found in one case of BALL and in another case of TALL. Conclusion The MTS1 gene inactivation could be found in AL children of China.Its incidence in T ALL might exceed that in BALL, but the point mutation was rare. There was a close correlation between MTS1 gene inactivation and the development of AL and the prognosis as well.

关 键 词：白血病 基因缺失 点突变 肿瘤抑制基因 PCR 

分 类 号：R733.702[医药卫生—肿瘤]